SNP Links for Protein (Select 224451107) - SNP

Select item 14884677441.

rs1488467744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:109092764 (GRCh38)
12:109530569 (GRCh37)
Canonical SPDI:: NC_000012.12:109092763:C:T
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109092764C>T, NC_000012.11:g.109530569C>T, NG_007284.1:g.155C>T, XM_005253835.6:c.23G>A, XM_005253835.5:c.23G>A, XM_005253835.4:c.23G>A, XM_005253835.3:c.23G>A, XM_005253835.2:c.23G>A, XM_005253835.1:c.23G>A, NM_001001655.3:c.23G>A, NM_001001655.2:c.23G>A, NM_001145374.2:c.23G>A, NM_001145374.1:c.23G>A, XM_005253836.2:c.23G>A, XM_005253836.1:c.23G>A, NM_001145375.2:c.23G>A, NM_001145375.1:c.23G>A, NM_001205179.2:c.23G>A, NM_001205179.1:c.23G>A, NM_001205180.2:c.23G>A, NM_001205180.1:c.23G>A, NR_026930.1:n.313G>A, NR_026931.1:n.266G>A, XM_047428309.1:c.23G>A, XP_005253892.1:p.Gly8Glu, NP_001001655.1:p.Gly8Glu, NP_001138846.1:p.Gly8Glu, XP_005253893.1:p.Gly8Glu, NP_001138847.1:p.Gly8Glu, NP_001192108.1:p.Gly8Glu, NP_001192109.1:p.Gly8Glu, XP_047284265.1:p.Gly8Glu

Select item 14882023212.

rs1488202321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109090191 (GRCh38)
12:109527996 (GRCh37)
Canonical SPDI:: NC_000012.12:109090190:G:A
Gene:: ALKBH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.109090191G>A, NC_000012.11:g.109527996G>A, XM_005253835.6:c.297C>T, XM_005253835.5:c.297C>T, XM_005253835.4:c.297C>T, XM_005253835.3:c.297C>T, XM_005253835.2:c.297C>T, XM_005253835.1:c.297C>T, NM_001001655.3:c.297C>T, NM_001001655.2:c.297C>T, NM_001145374.2:c.297C>T, NM_001145374.1:c.297C>T, NM_001145375.2:c.297C>T, NM_001145375.1:c.297C>T

Select item 14842444363.

rs1484244436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:109090049 (GRCh38)
12:109527854 (GRCh37)
Canonical SPDI:: NC_000012.12:109090048:C:A
Gene:: ALKBH2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109090049C>A, NC_000012.11:g.109527854C>A, XM_005253835.6:c.439G>T, XM_005253835.5:c.439G>T, XM_005253835.4:c.439G>T, XM_005253835.3:c.439G>T, XM_005253835.2:c.439G>T, XM_005253835.1:c.439G>T, NM_001001655.3:c.439G>T, NM_001001655.2:c.439G>T, NM_001145374.2:c.439G>T, NM_001145374.1:c.439G>T, NM_001145375.2:c.439G>T, NM_001145375.1:c.439G>T, XP_005253892.1:p.Gly147Trp, NP_001001655.1:p.Gly147Trp, NP_001138846.1:p.Gly147Trp, NP_001138847.1:p.Gly147Trp

Select item 14820980414.

rs1482098041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 12:109090057 (GRCh38)
12:109527862 (GRCh37)
Canonical SPDI:: NC_000012.12:109090056:T:A,NC_000012.12:109090056:T:G
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.109090057T>A, NC_000012.12:g.109090057T>G, NC_000012.11:g.109527862T>A, NC_000012.11:g.109527862T>G, XM_005253835.6:c.431A>T, XM_005253835.6:c.431A>C, XM_005253835.5:c.431A>T, XM_005253835.5:c.431A>C, XM_005253835.4:c.431A>T, XM_005253835.4:c.431A>C, XM_005253835.3:c.431A>T, XM_005253835.3:c.431A>C, XM_005253835.2:c.431A>T, XM_005253835.2:c.431A>C, XM_005253835.1:c.431A>T, XM_005253835.1:c.431A>C, NM_001001655.3:c.431A>T, NM_001001655.3:c.431A>C, NM_001001655.2:c.431A>T, NM_001001655.2:c.431A>C, NM_001145374.2:c.431A>T, NM_001145374.2:c.431A>C, NM_001145374.1:c.431A>T, NM_001145374.1:c.431A>C, NM_001145375.2:c.431A>T, NM_001145375.2:c.431A>C, NM_001145375.1:c.431A>T, NM_001145375.1:c.431A>C, XP_005253892.1:p.His144Leu, XP_005253892.1:p.His144Pro, NP_001001655.1:p.His144Leu, NP_001001655.1:p.His144Pro, NP_001138846.1:p.His144Leu, NP_001138846.1:p.His144Pro, NP_001138847.1:p.His144Leu, NP_001138847.1:p.His144Pro

Select item 14820641865.

rs1482064186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:109088230 (GRCh38)
12:109526035 (GRCh37)
Canonical SPDI:: NC_000012.12:109088229:A:G
Gene:: USP30 (Varview), ALKBH2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109088230A>G, NC_000012.11:g.109526035A>G, XM_005253835.6:c.762T>C, XM_005253835.5:c.762T>C, XM_005253835.4:c.762T>C, XM_005253835.3:c.762T>C, XM_005253835.2:c.762T>C, XM_005253835.1:c.762T>C, NM_001001655.3:c.762T>C, NM_001001655.2:c.762T>C, NM_001145374.2:c.762T>C, NM_001145374.1:c.762T>C, XM_005253836.2:c.*89T>C, XM_005253836.1:c.*89T>C, NM_001145375.2:c.762T>C, NM_001145375.1:c.762T>C, NM_001205179.2:c.*89T>C, NM_001205179.1:c.*89T>C, NM_001205180.2:c.*89T>C, NM_001205180.1:c.*89T>C, NR_026930.1:n.853T>C, NR_026931.1:n.806T>C, XM_047428309.1:c.*89T>C

Select item 14805313716.

rs1480531371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109092775 (GRCh38)
12:109530580 (GRCh37)
Canonical SPDI:: NC_000012.12:109092774:G:A
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109092775G>A, NC_000012.11:g.109530580G>A, NG_007284.1:g.166G>A, XM_005253835.6:c.12C>T, XM_005253835.5:c.12C>T, XM_005253835.4:c.12C>T, XM_005253835.3:c.12C>T, XM_005253835.2:c.12C>T, XM_005253835.1:c.12C>T, NM_001001655.3:c.12C>T, NM_001001655.2:c.12C>T, NM_001145374.2:c.12C>T, NM_001145374.1:c.12C>T, XM_005253836.2:c.12C>T, XM_005253836.1:c.12C>T, NM_001145375.2:c.12C>T, NM_001145375.1:c.12C>T, NM_001205179.2:c.12C>T, NM_001205179.1:c.12C>T, NM_001205180.2:c.12C>T, NM_001205180.1:c.12C>T, NR_026930.1:n.302C>T, NR_026931.1:n.255C>T, XM_047428309.1:c.12C>T

Select item 14788862087.

rs1478886208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:109090199 (GRCh38)
12:109528004 (GRCh37)
Canonical SPDI:: NC_000012.12:109090198:C:T
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.109090199C>T, NC_000012.11:g.109528004C>T, XM_005253835.6:c.289G>A, XM_005253835.5:c.289G>A, XM_005253835.4:c.289G>A, XM_005253835.3:c.289G>A, XM_005253835.2:c.289G>A, XM_005253835.1:c.289G>A, NM_001001655.3:c.289G>A, NM_001001655.2:c.289G>A, NM_001145374.2:c.289G>A, NM_001145374.1:c.289G>A, NM_001145375.2:c.289G>A, NM_001145375.1:c.289G>A, XP_005253892.1:p.Ala97Thr, NP_001001655.1:p.Ala97Thr, NP_001138846.1:p.Ala97Thr, NP_001138847.1:p.Ala97Thr

Select item 14757247788.

rs1475724778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:109090115 (GRCh38)
12:109527920 (GRCh37)
Canonical SPDI:: NC_000012.12:109090114:A:C
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.109090115A>C, NC_000012.11:g.109527920A>C, XM_005253835.6:c.373T>G, XM_005253835.5:c.373T>G, XM_005253835.4:c.373T>G, XM_005253835.3:c.373T>G, XM_005253835.2:c.373T>G, XM_005253835.1:c.373T>G, NM_001001655.3:c.373T>G, NM_001001655.2:c.373T>G, NM_001145374.2:c.373T>G, NM_001145374.1:c.373T>G, NM_001145375.2:c.373T>G, NM_001145375.1:c.373T>G, XP_005253892.1:p.Ser125Ala, NP_001001655.1:p.Ser125Ala, NP_001138846.1:p.Ser125Ala, NP_001138847.1:p.Ser125Ala

Select item 14607754109.

rs1460775410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109092653 (GRCh38)
12:109530458 (GRCh37)
Canonical SPDI:: NC_000012.12:109092652:G:A
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.109092653G>A, NC_000012.11:g.109530458G>A, NG_007284.1:g.44G>A, XM_005253835.6:c.134C>T, XM_005253835.5:c.134C>T, XM_005253835.4:c.134C>T, XM_005253835.3:c.134C>T, XM_005253835.2:c.134C>T, XM_005253835.1:c.134C>T, NM_001001655.3:c.134C>T, NM_001001655.2:c.134C>T, NM_001145374.2:c.134C>T, NM_001145374.1:c.134C>T, XM_005253836.2:c.134C>T, XM_005253836.1:c.134C>T, NM_001145375.2:c.134C>T, NM_001145375.1:c.134C>T, NM_001205179.2:c.134C>T, NM_001205179.1:c.134C>T, NM_001205180.2:c.134C>T, NM_001205180.1:c.134C>T, NR_026930.1:n.424C>T, NR_026931.1:n.377C>T, XM_047428309.1:c.134C>T, XP_005253892.1:p.Ala45Val, NP_001001655.1:p.Ala45Val, NP_001138846.1:p.Ala45Val, XP_005253893.1:p.Ala45Val, NP_001138847.1:p.Ala45Val, NP_001192108.1:p.Ala45Val, NP_001192109.1:p.Ala45Val, XP_047284265.1:p.Ala45Val

Select item 145522447010.

rs1455224470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:109092733 (GRCh38)
12:109530538 (GRCh37)
Canonical SPDI:: NC_000012.12:109092732:C:T
Gene:: ALKBH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109092733C>T, NC_000012.11:g.109530538C>T, NG_007284.1:g.124C>T, XM_005253835.6:c.54G>A, XM_005253835.5:c.54G>A, XM_005253835.4:c.54G>A, XM_005253835.3:c.54G>A, XM_005253835.2:c.54G>A, XM_005253835.1:c.54G>A, NM_001001655.3:c.54G>A, NM_001001655.2:c.54G>A, NM_001145374.2:c.54G>A, NM_001145374.1:c.54G>A, XM_005253836.2:c.54G>A, XM_005253836.1:c.54G>A, NM_001145375.2:c.54G>A, NM_001145375.1:c.54G>A, NM_001205179.2:c.54G>A, NM_001205179.1:c.54G>A, NM_001205180.2:c.54G>A, NM_001205180.1:c.54G>A, NR_026930.1:n.344G>A, NR_026931.1:n.297G>A, XM_047428309.1:c.54G>A

Select item 145319598011.

rs1453195980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:109092595 (GRCh38)
12:109530400 (GRCh37)
Canonical SPDI:: NC_000012.12:109092594:G:C
Gene:: ALKBH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.109092595G>C, NC_000012.11:g.109530400G>C, XM_005253835.6:c.192C>G, XM_005253835.5:c.192C>G, XM_005253835.4:c.192C>G, XM_005253835.3:c.192C>G, XM_005253835.2:c.192C>G, XM_005253835.1:c.192C>G, NM_001001655.3:c.192C>G, NM_001001655.2:c.192C>G, NM_001145374.2:c.192C>G, NM_001145374.1:c.192C>G, XM_005253836.2:c.192C>G, XM_005253836.1:c.192C>G, NM_001145375.2:c.192C>G, NM_001145375.1:c.192C>G, NM_001205179.2:c.192C>G, NM_001205179.1:c.192C>G, NM_001205180.2:c.192C>G, NM_001205180.1:c.192C>G, NR_026930.1:n.482C>G, NR_026931.1:n.435C>G, XM_047428309.1:c.192C>G

Select item 144874395212.

rs1448743952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:109090062 (GRCh38)
12:109527867 (GRCh37)
Canonical SPDI:: NC_000012.12:109090061:C:T
Gene:: ALKBH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109090062C>T, NC_000012.11:g.109527867C>T, XM_005253835.6:c.426G>A, XM_005253835.5:c.426G>A, XM_005253835.4:c.426G>A, XM_005253835.3:c.426G>A, XM_005253835.2:c.426G>A, XM_005253835.1:c.426G>A, NM_001001655.3:c.426G>A, NM_001001655.2:c.426G>A, NM_001145374.2:c.426G>A, NM_001145374.1:c.426G>A, NM_001145375.2:c.426G>A, NM_001145375.1:c.426G>A

Select item 144824881613.

rs1448248816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:109092631 (GRCh38)
12:109530436 (GRCh37)
Canonical SPDI:: NC_000012.12:109092630:T:A,NC_000012.12:109092630:T:C
Gene:: ALKBH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109092631T>A, NC_000012.12:g.109092631T>C, NC_000012.11:g.109530436T>A, NC_000012.11:g.109530436T>C, NG_007284.1:g.22T>A, NG_007284.1:g.22T>C, XM_005253835.6:c.156A>T, XM_005253835.6:c.156A>G, XM_005253835.5:c.156A>T, XM_005253835.5:c.156A>G, XM_005253835.4:c.156A>T, XM_005253835.4:c.156A>G, XM_005253835.3:c.156A>T, XM_005253835.3:c.156A>G, XM_005253835.2:c.156A>T, XM_005253835.2:c.156A>G, XM_005253835.1:c.156A>T, XM_005253835.1:c.156A>G, NM_001001655.3:c.156A>T, NM_001001655.3:c.156A>G, NM_001001655.2:c.156A>T, NM_001001655.2:c.156A>G, NM_001145374.2:c.156A>T, NM_001145374.2:c.156A>G, NM_001145374.1:c.156A>T, NM_001145374.1:c.156A>G, XM_005253836.2:c.156A>T, XM_005253836.2:c.156A>G, XM_005253836.1:c.156A>T, XM_005253836.1:c.156A>G, NM_001145375.2:c.156A>T, NM_001145375.2:c.156A>G, NM_001145375.1:c.156A>T, NM_001145375.1:c.156A>G, NM_001205179.2:c.156A>T, NM_001205179.2:c.156A>G, NM_001205179.1:c.156A>T, NM_001205179.1:c.156A>G, NM_001205180.2:c.156A>T, NM_001205180.2:c.156A>G, NM_001205180.1:c.156A>T, NM_001205180.1:c.156A>G, NR_026930.1:n.446A>T, NR_026930.1:n.446A>G, NR_026931.1:n.399A>T, NR_026931.1:n.399A>G, XM_047428309.1:c.156A>T, XM_047428309.1:c.156A>G

Select item 144746220214.

rs1447462202 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:109090190 (GRCh38)
12:109527995 (GRCh37)
Canonical SPDI:: NC_000012.12:109090189:GG:G
Gene:: ALKBH2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109090191del, NC_000012.11:g.109527996del, XM_005253835.6:c.298del, XM_005253835.5:c.298del, XM_005253835.4:c.298del, XM_005253835.3:c.298del, XM_005253835.2:c.298del, XM_005253835.1:c.298del, NM_001001655.3:c.298del, NM_001001655.2:c.298del, NM_001145374.2:c.298del, NM_001145374.1:c.298del, NM_001145375.2:c.298del, NM_001145375.1:c.298del, XP_005253892.1:p.Gln100fs, NP_001001655.1:p.Gln100fs, NP_001138846.1:p.Gln100fs, NP_001138847.1:p.Gln100fs

Select item 144691230315.

rs1446912303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109092565 (GRCh38)
12:109530370 (GRCh37)
Canonical SPDI:: NC_000012.12:109092564:G:A
Gene:: ALKBH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109092565G>A, NC_000012.11:g.109530370G>A, XM_005253835.6:c.222C>T, XM_005253835.5:c.222C>T, XM_005253835.4:c.222C>T, XM_005253835.3:c.222C>T, XM_005253835.2:c.222C>T, XM_005253835.1:c.222C>T, NM_001001655.3:c.222C>T, NM_001001655.2:c.222C>T, NM_001145374.2:c.222C>T, NM_001145374.1:c.222C>T, XM_005253836.2:c.222C>T, XM_005253836.1:c.222C>T, NM_001145375.2:c.222C>T, NM_001145375.1:c.222C>T, NM_001205179.2:c.222C>T, NM_001205179.1:c.222C>T, NM_001205180.2:c.222C>T, NM_001205180.1:c.222C>T, NR_026930.1:n.512C>T, NR_026931.1:n.465C>T, XM_047428309.1:c.222C>T

Select item 144282373916.

rs1442823739 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:109088414 (GRCh38)
12:109526219 (GRCh37)
Canonical SPDI:: NC_000012.12:109088410:TCTCT:TCT
Gene:: USP30 (Varview), ALKBH2 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.109088412CT[1], NC_000012.11:g.109526217CT[1], XM_005253835.6:c.580_581del, XM_005253835.5:c.580_581del, XM_005253835.4:c.580_581del, XM_005253835.3:c.580_581del, XM_005253835.2:c.580_581del, XM_005253835.1:c.580_581del, NM_001001655.3:c.580_581del, NM_001001655.2:c.580_581del, NM_001145374.2:c.580_581del, NM_001145374.1:c.580_581del, XM_005253836.2:c.381_382del, XM_005253836.1:c.381_382del, NM_001145375.2:c.580_581del, NM_001145375.1:c.580_581del, NM_001205179.2:c.381_382del, NM_001205179.1:c.381_382del, NM_001205180.2:c.381_382del, NM_001205180.1:c.381_382del, NR_026930.1:n.669GA[1], NR_026931.1:n.622GA[1], XM_047428309.1:c.381_382del, XP_005253892.1:p.Asp194fs, NP_001001655.1:p.Asp194fs, NP_001138846.1:p.Asp194fs, XP_005253893.1:p.Glu127fs, NP_001138847.1:p.Asp194fs, NP_001192108.1:p.Glu127fs, NP_001192109.1:p.Glu127fs, XP_047284265.1:p.Glu127fs

Select item 143736201617.

rs1437362016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:109088457 (GRCh38)
12:109526262 (GRCh37)
Canonical SPDI:: NC_000012.12:109088456:C:T
Gene:: USP30 (Varview), ALKBH2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,stop_gained,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.109088457C>T, NC_000012.11:g.109526262C>T, XM_005253835.6:c.535G>A, XM_005253835.5:c.535G>A, XM_005253835.4:c.535G>A, XM_005253835.3:c.535G>A, XM_005253835.2:c.535G>A, XM_005253835.1:c.535G>A, NM_001001655.3:c.535G>A, NM_001001655.2:c.535G>A, NM_001145374.2:c.535G>A, NM_001145374.1:c.535G>A, XM_005253836.2:c.336G>A, XM_005253836.1:c.336G>A, NM_001145375.2:c.535G>A, NM_001145375.1:c.535G>A, NM_001205179.2:c.336G>A, NM_001205179.1:c.336G>A, NM_001205180.2:c.336G>A, NM_001205180.1:c.336G>A, NR_026930.1:n.626G>A, NR_026931.1:n.579G>A, XM_047428309.1:c.336G>A, XP_005253892.1:p.Ala179Thr, NP_001001655.1:p.Ala179Thr, NP_001138846.1:p.Ala179Thr, XP_005253893.1:p.Trp112Ter, NP_001138847.1:p.Ala179Thr, NP_001192108.1:p.Trp112Ter, NP_001192109.1:p.Trp112Ter, XP_047284265.1:p.Trp112Ter

Select item 143411757818.

rs1434117578 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:109088467 (GRCh38)
12:109526272 (GRCh37)
Canonical SPDI:: NC_000012.12:109088466:T:A,NC_000012.12:109088466:T:C
Gene:: USP30 (Varview), ALKBH2 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000354/6 (TOMMO)
HGVS:: NC_000012.12:g.109088467T>A, NC_000012.12:g.109088467T>C, NC_000012.11:g.109526272T>A, NC_000012.11:g.109526272T>C, XM_005253835.6:c.525A>T, XM_005253835.6:c.525A>G, XM_005253835.5:c.525A>T, XM_005253835.5:c.525A>G, XM_005253835.4:c.525A>T, XM_005253835.4:c.525A>G, XM_005253835.3:c.525A>T, XM_005253835.3:c.525A>G, XM_005253835.2:c.525A>T, XM_005253835.2:c.525A>G, XM_005253835.1:c.525A>T, XM_005253835.1:c.525A>G, NM_001001655.3:c.525A>T, NM_001001655.3:c.525A>G, NM_001001655.2:c.525A>T, NM_001001655.2:c.525A>G, NM_001145374.2:c.525A>T, NM_001145374.2:c.525A>G, NM_001145374.1:c.525A>T, NM_001145374.1:c.525A>G, XM_005253836.2:c.326A>T, XM_005253836.2:c.326A>G, XM_005253836.1:c.326A>T, XM_005253836.1:c.326A>G, NM_001145375.2:c.525A>T, NM_001145375.2:c.525A>G, NM_001145375.1:c.525A>T, NM_001145375.1:c.525A>G, NM_001205179.2:c.326A>T, NM_001205179.2:c.326A>G, NM_001205179.1:c.326A>T, NM_001205179.1:c.326A>G, NM_001205180.2:c.326A>T, NM_001205180.2:c.326A>G, NM_001205180.1:c.326A>T, NM_001205180.1:c.326A>G, NR_026930.1:n.616A>T, NR_026930.1:n.616A>G, NR_026931.1:n.569A>T, NR_026931.1:n.569A>G, XM_047428309.1:c.326A>T, XM_047428309.1:c.326A>G, XP_005253892.1:p.Glu175Asp, NP_001001655.1:p.Glu175Asp, NP_001138846.1:p.Glu175Asp, XP_005253893.1:p.Lys109Ile, XP_005253893.1:p.Lys109Arg, NP_001138847.1:p.Glu175Asp, NP_001192108.1:p.Lys109Ile, NP_001192108.1:p.Lys109Arg, NP_001192109.1:p.Lys109Ile, NP_001192109.1:p.Lys109Arg, XP_047284265.1:p.Lys109Ile, XP_047284265.1:p.Lys109Arg

Select item 143094655219.

rs1430946552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:109092708 (GRCh38)
12:109530513 (GRCh37)
Canonical SPDI:: NC_000012.12:109092707:G:A
Gene:: ALKBH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.109092708G>A, NC_000012.11:g.109530513G>A, NG_007284.1:g.99G>A, XM_005253835.6:c.79C>T, XM_005253835.5:c.79C>T, XM_005253835.4:c.79C>T, XM_005253835.3:c.79C>T, XM_005253835.2:c.79C>T, XM_005253835.1:c.79C>T, NM_001001655.3:c.79C>T, NM_001001655.2:c.79C>T, NM_001145374.2:c.79C>T, NM_001145374.1:c.79C>T, XM_005253836.2:c.79C>T, XM_005253836.1:c.79C>T, NM_001145375.2:c.79C>T, NM_001145375.1:c.79C>T, NM_001205179.2:c.79C>T, NM_001205179.1:c.79C>T, NM_001205180.2:c.79C>T, NM_001205180.1:c.79C>T, NR_026930.1:n.369C>T, NR_026931.1:n.322C>T, XM_047428309.1:c.79C>T, XP_005253892.1:p.Pro27Ser, NP_001001655.1:p.Pro27Ser, NP_001138846.1:p.Pro27Ser, XP_005253893.1:p.Pro27Ser, NP_001138847.1:p.Pro27Ser, NP_001192108.1:p.Pro27Ser, NP_001192109.1:p.Pro27Ser, XP_047284265.1:p.Pro27Ser

Select item 142697313720.

rs1426973137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:109092633 (GRCh38)
12:109530438 (GRCh37)
Canonical SPDI:: NC_000012.12:109092632:A:G
Gene:: ALKBH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.109092633A>G, NC_000012.11:g.109530438A>G, NG_007284.1:g.24A>G, XM_005253835.6:c.154T>C, XM_005253835.5:c.154T>C, XM_005253835.4:c.154T>C, XM_005253835.3:c.154T>C, XM_005253835.2:c.154T>C, XM_005253835.1:c.154T>C, NM_001001655.3:c.154T>C, NM_001001655.2:c.154T>C, NM_001145374.2:c.154T>C, NM_001145374.1:c.154T>C, XM_005253836.2:c.154T>C, XM_005253836.1:c.154T>C, NM_001145375.2:c.154T>C, NM_001145375.1:c.154T>C, NM_001205179.2:c.154T>C, NM_001205179.1:c.154T>C, NM_001205180.2:c.154T>C, NM_001205180.1:c.154T>C, NR_026930.1:n.444T>C, NR_026931.1:n.397T>C, XM_047428309.1:c.154T>C, XP_005253892.1:p.Ser52Pro, NP_001001655.1:p.Ser52Pro, NP_001138846.1:p.Ser52Pro, XP_005253893.1:p.Ser52Pro, NP_001138847.1:p.Ser52Pro, NP_001192108.1:p.Ser52Pro, NP_001192109.1:p.Ser52Pro, XP_047284265.1:p.Ser52Pro

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Result Filters

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Items: 1 to 20 of 280

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