SNP Links for Protein (Select 922304282) - SNP

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Links from Protein

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Select item 14859232661.

rs1485923266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124768010 (GRCh38)
11:124637906 (GRCh37)
Canonical SPDI:: NC_000011.10:124768009:C:T
Gene:: MSANTD2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_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_000011.10:g.124768010C>T, NC_000011.9:g.124637906C>T, NM_024631.4:c.690G>A, NM_024631.3:c.690G>A, NM_024631.2:c.690G>A, NM_001312920.2:c.156G>A, NM_001312920.1:c.156G>A, NM_001352400.2:c.156G>A, NM_001352400.1:c.156G>A, NM_001352401.2:c.156G>A, NM_001352401.1:c.156G>A, NM_001308027.2:c.846G>A, NM_001308027.1:c.846G>A, NM_001312921.2:c.156G>A, NM_001312921.1:c.156G>A, NM_001312919.2:c.*50G>A, NM_001312919.1:c.*50G>A, NM_001301087.1:c.156G>A, NR_131749.1:n.614G>A

Select item 14852112392.

rs1485211239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124767238 (GRCh38)
11:124637134 (GRCh37)
Canonical SPDI:: NC_000011.10:124767237:C:T
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.124767238C>T, NC_000011.9:g.124637134C>T, NM_024631.4:c.1462G>A, NM_024631.3:c.1462G>A, NM_024631.2:c.1462G>A, NM_001312920.2:c.928G>A, NM_001312920.1:c.928G>A, NM_001352400.2:c.928G>A, NM_001352400.1:c.928G>A, NM_001352401.2:c.928G>A, NM_001352401.1:c.928G>A, NM_001308027.2:c.1618G>A, NM_001308027.1:c.1618G>A, NM_001312921.2:c.928G>A, NM_001312921.1:c.928G>A, NM_001312919.2:c.*822G>A, NM_001312919.1:c.*822G>A, NM_001301087.1:c.928G>A, NR_131749.1:n.1386G>A, NP_078907.2:p.Ala488Thr, NP_001299849.1:p.Ala310Thr, NP_001339329.1:p.Ala310Thr, NP_001339330.1:p.Ala310Thr, NP_001294956.1:p.Ala540Thr, NP_001299850.1:p.Ala310Thr

Select item 14832927763.

rs1483292776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124767454 (GRCh38)
11:124637350 (GRCh37)
Canonical SPDI:: NC_000011.10:124767453:C:T
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000174/4 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.124767454C>T, NC_000011.9:g.124637350C>T, NM_024631.4:c.1246G>A, NM_024631.3:c.1246G>A, NM_024631.2:c.1246G>A, NM_001312920.2:c.712G>A, NM_001312920.1:c.712G>A, NM_001352400.2:c.712G>A, NM_001352400.1:c.712G>A, NM_001352401.2:c.712G>A, NM_001352401.1:c.712G>A, NM_001308027.2:c.1402G>A, NM_001308027.1:c.1402G>A, NM_001312921.2:c.712G>A, NM_001312921.1:c.712G>A, NM_001312919.2:c.*606G>A, NM_001312919.1:c.*606G>A, NM_001301087.1:c.712G>A, NR_131749.1:n.1170G>A, NP_078907.2:p.Glu416Lys, NP_001299849.1:p.Glu238Lys, NP_001339329.1:p.Glu238Lys, NP_001339330.1:p.Glu238Lys, NP_001294956.1:p.Glu468Lys, NP_001299850.1:p.Glu238Lys

Select item 14829670604.

rs1482967060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124767913 (GRCh38)
11:124637809 (GRCh37)
Canonical SPDI:: NC_000011.10:124767912:T:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767913T>C, NC_000011.9:g.124637809T>C, NM_024631.4:c.787A>G, NM_024631.3:c.787A>G, NM_024631.2:c.787A>G, NM_001312920.2:c.253A>G, NM_001312920.1:c.253A>G, NM_001352400.2:c.253A>G, NM_001352400.1:c.253A>G, NM_001352401.2:c.253A>G, NM_001352401.1:c.253A>G, NM_001308027.2:c.943A>G, NM_001308027.1:c.943A>G, NM_001312921.2:c.253A>G, NM_001312921.1:c.253A>G, NM_001312919.2:c.*147A>G, NM_001312919.1:c.*147A>G, NM_001301087.1:c.253A>G, NR_131749.1:n.711A>G, NP_078907.2:p.Ile263Val, NP_001299849.1:p.Ile85Val, NP_001339329.1:p.Ile85Val, NP_001339330.1:p.Ile85Val, NP_001294956.1:p.Ile315Val, NP_001299850.1:p.Ile85Val

Select item 14743157305.

rs1474315730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124767966 (GRCh38)
11:124637862 (GRCh37)
Canonical SPDI:: NC_000011.10:124767965:A:G
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124767966A>G, NC_000011.9:g.124637862A>G, NM_024631.4:c.734T>C, NM_024631.3:c.734T>C, NM_024631.2:c.734T>C, NM_001312920.2:c.200T>C, NM_001312920.1:c.200T>C, NM_001352400.2:c.200T>C, NM_001352400.1:c.200T>C, NM_001352401.2:c.200T>C, NM_001352401.1:c.200T>C, NM_001308027.2:c.890T>C, NM_001308027.1:c.890T>C, NM_001312921.2:c.200T>C, NM_001312921.1:c.200T>C, NM_001312919.2:c.*94T>C, NM_001312919.1:c.*94T>C, NM_001301087.1:c.200T>C, NR_131749.1:n.658T>C, NP_078907.2:p.Leu245Pro, NP_001299849.1:p.Leu67Pro, NP_001339329.1:p.Leu67Pro, NP_001339330.1:p.Leu67Pro, NP_001294956.1:p.Leu297Pro, NP_001299850.1:p.Leu67Pro

Select item 14741763666.

rs1474176366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124767555 (GRCh38)
11:124637451 (GRCh37)
Canonical SPDI:: NC_000011.10:124767554:G:A
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124767555G>A, NC_000011.9:g.124637451G>A, NM_024631.4:c.1145C>T, NM_024631.3:c.1145C>T, NM_024631.2:c.1145C>T, NM_001312920.2:c.611C>T, NM_001312920.1:c.611C>T, NM_001352400.2:c.611C>T, NM_001352400.1:c.611C>T, NM_001352401.2:c.611C>T, NM_001352401.1:c.611C>T, NM_001308027.2:c.1301C>T, NM_001308027.1:c.1301C>T, NM_001312921.2:c.611C>T, NM_001312921.1:c.611C>T, NM_001312919.2:c.*505C>T, NM_001312919.1:c.*505C>T, NM_001301087.1:c.611C>T, NR_131749.1:n.1069C>T, NP_078907.2:p.Pro382Leu, NP_001299849.1:p.Pro204Leu, NP_001339329.1:p.Pro204Leu, NP_001339330.1:p.Pro204Leu, NP_001294956.1:p.Pro434Leu, NP_001299850.1:p.Pro204Leu

Select item 14725125857.

rs1472512585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124767823 (GRCh38)
11:124637719 (GRCh37)
Canonical SPDI:: NC_000011.10:124767822:G:A
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767823G>A, NC_000011.9:g.124637719G>A, NM_024631.4:c.877C>T, NM_024631.3:c.877C>T, NM_024631.2:c.877C>T, NM_001312920.2:c.343C>T, NM_001312920.1:c.343C>T, NM_001352400.2:c.343C>T, NM_001352400.1:c.343C>T, NM_001352401.2:c.343C>T, NM_001352401.1:c.343C>T, NM_001308027.2:c.1033C>T, NM_001308027.1:c.1033C>T, NM_001312921.2:c.343C>T, NM_001312921.1:c.343C>T, NM_001312919.2:c.*237C>T, NM_001312919.1:c.*237C>T, NM_001301087.1:c.343C>T, NR_131749.1:n.801C>T, NP_078907.2:p.Leu293Phe, NP_001299849.1:p.Leu115Phe, NP_001339329.1:p.Leu115Phe, NP_001339330.1:p.Leu115Phe, NP_001294956.1:p.Leu345Phe, NP_001299850.1:p.Leu115Phe

Select item 14577234258.

rs1457723425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124767205 (GRCh38)
11:124637101 (GRCh37)
Canonical SPDI:: NC_000011.10:124767204:T:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000045/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767205T>C, NC_000011.9:g.124637101T>C, NM_024631.4:c.1495A>G, NM_024631.3:c.1495A>G, NM_024631.2:c.1495A>G, NM_001312920.2:c.961A>G, NM_001312920.1:c.961A>G, NM_001352400.2:c.961A>G, NM_001352400.1:c.961A>G, NM_001352401.2:c.961A>G, NM_001352401.1:c.961A>G, NM_001308027.2:c.1651A>G, NM_001308027.1:c.1651A>G, NM_001312921.2:c.961A>G, NM_001312921.1:c.961A>G, NM_001312919.2:c.*855A>G, NM_001312919.1:c.*855A>G, NM_001301087.1:c.961A>G, NR_131749.1:n.1419A>G, NP_078907.2:p.Ile499Val, NP_001299849.1:p.Ile321Val, NP_001339329.1:p.Ile321Val, NP_001339330.1:p.Ile321Val, NP_001294956.1:p.Ile551Val, NP_001299850.1:p.Ile321Val

Select item 14571014699.

rs1457101469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124774772 (GRCh38)
11:124644668 (GRCh37)
Canonical SPDI:: NC_000011.10:124774771:T:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.124774772T>C, NC_000011.9:g.124644668T>C, NM_024631.4:c.557A>G, NM_024631.3:c.557A>G, NM_024631.2:c.557A>G, NM_001312920.2:c.23A>G, NM_001312920.1:c.23A>G, NM_001352400.2:c.23A>G, NM_001352400.1:c.23A>G, NM_001352401.2:c.23A>G, NM_001352401.1:c.23A>G, NM_001308027.2:c.713A>G, NM_001308027.1:c.713A>G, NM_001312921.2:c.23A>G, NM_001312921.1:c.23A>G, NM_001301087.1:c.23A>G, NP_078907.2:p.Asp186Gly, NP_001299849.1:p.Asp8Gly, NP_001339329.1:p.Asp8Gly, NP_001339330.1:p.Asp8Gly, NP_001294956.1:p.Asp238Gly, NP_001299850.1:p.Asp8Gly

Select item 145538463310.

rs1455384633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124767917 (GRCh38)
11:124637813 (GRCh37)
Canonical SPDI:: NC_000011.10:124767916:C:T
Gene:: MSANTD2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.124767917C>T, NC_000011.9:g.124637813C>T, NM_024631.4:c.783G>A, NM_024631.3:c.783G>A, NM_024631.2:c.783G>A, NM_001312920.2:c.249G>A, NM_001312920.1:c.249G>A, NM_001352400.2:c.249G>A, NM_001352400.1:c.249G>A, NM_001352401.2:c.249G>A, NM_001352401.1:c.249G>A, NM_001308027.2:c.939G>A, NM_001308027.1:c.939G>A, NM_001312921.2:c.249G>A, NM_001312921.1:c.249G>A, NM_001312919.2:c.*143G>A, NM_001312919.1:c.*143G>A, NM_001301087.1:c.249G>A, NR_131749.1:n.707G>A

Select item 145479172211.

rs1454791722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:124767543 (GRCh38)
11:124637439 (GRCh37)
Canonical SPDI:: NC_000011.10:124767542:T:G
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124767543T>G, NC_000011.9:g.124637439T>G, NM_024631.4:c.1157A>C, NM_024631.3:c.1157A>C, NM_024631.2:c.1157A>C, NM_001312920.2:c.623A>C, NM_001312920.1:c.623A>C, NM_001352400.2:c.623A>C, NM_001352400.1:c.623A>C, NM_001352401.2:c.623A>C, NM_001352401.1:c.623A>C, NM_001308027.2:c.1313A>C, NM_001308027.1:c.1313A>C, NM_001312921.2:c.623A>C, NM_001312921.1:c.623A>C, NM_001312919.2:c.*517A>C, NM_001312919.1:c.*517A>C, NM_001301087.1:c.623A>C, NR_131749.1:n.1081A>C, NP_078907.2:p.His386Pro, NP_001299849.1:p.His208Pro, NP_001339329.1:p.His208Pro, NP_001339330.1:p.His208Pro, NP_001294956.1:p.His438Pro, NP_001299850.1:p.His208Pro

Select item 145145449712.

rs1451454497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124767249 (GRCh38)
11:124637145 (GRCh37)
Canonical SPDI:: NC_000011.10:124767248:T:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124767249T>C, NC_000011.9:g.124637145T>C, NM_024631.4:c.1451A>G, NM_024631.3:c.1451A>G, NM_024631.2:c.1451A>G, NM_001312920.2:c.917A>G, NM_001312920.1:c.917A>G, NM_001352400.2:c.917A>G, NM_001352400.1:c.917A>G, NM_001352401.2:c.917A>G, NM_001352401.1:c.917A>G, NM_001308027.2:c.1607A>G, NM_001308027.1:c.1607A>G, NM_001312921.2:c.917A>G, NM_001312921.1:c.917A>G, NM_001312919.2:c.*811A>G, NM_001312919.1:c.*811A>G, NM_001301087.1:c.917A>G, NR_131749.1:n.1375A>G, NP_078907.2:p.Asp484Gly, NP_001299849.1:p.Asp306Gly, NP_001339329.1:p.Asp306Gly, NP_001339330.1:p.Asp306Gly, NP_001294956.1:p.Asp536Gly, NP_001299850.1:p.Asp306Gly

Select item 145096580913.

rs1450965809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:124767565 (GRCh38)
11:124637461 (GRCh37)
Canonical SPDI:: NC_000011.10:124767564:T:A
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767565T>A, NC_000011.9:g.124637461T>A, NM_024631.4:c.1135A>T, NM_024631.3:c.1135A>T, NM_024631.2:c.1135A>T, NM_001312920.2:c.601A>T, NM_001312920.1:c.601A>T, NM_001352400.2:c.601A>T, NM_001352400.1:c.601A>T, NM_001352401.2:c.601A>T, NM_001352401.1:c.601A>T, NM_001308027.2:c.1291A>T, NM_001308027.1:c.1291A>T, NM_001312921.2:c.601A>T, NM_001312921.1:c.601A>T, NM_001312919.2:c.*495A>T, NM_001312919.1:c.*495A>T, NM_001301087.1:c.601A>T, NR_131749.1:n.1059A>T, NP_078907.2:p.Ile379Phe, NP_001299849.1:p.Ile201Phe, NP_001339329.1:p.Ile201Phe, NP_001339330.1:p.Ile201Phe, NP_001294956.1:p.Ile431Phe, NP_001299850.1:p.Ile201Phe

Select item 145090571514.

rs1450905715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124767544 (GRCh38)
11:124637440 (GRCh37)
Canonical SPDI:: NC_000011.10:124767543:G:A
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.124767544G>A, NC_000011.9:g.124637440G>A, NM_024631.4:c.1156C>T, NM_024631.3:c.1156C>T, NM_024631.2:c.1156C>T, NM_001312920.2:c.622C>T, NM_001312920.1:c.622C>T, NM_001352400.2:c.622C>T, NM_001352400.1:c.622C>T, NM_001352401.2:c.622C>T, NM_001352401.1:c.622C>T, NM_001308027.2:c.1312C>T, NM_001308027.1:c.1312C>T, NM_001312921.2:c.622C>T, NM_001312921.1:c.622C>T, NM_001312919.2:c.*516C>T, NM_001312919.1:c.*516C>T, NM_001301087.1:c.622C>T, NR_131749.1:n.1080C>T, NP_078907.2:p.His386Tyr, NP_001299849.1:p.His208Tyr, NP_001339329.1:p.His208Tyr, NP_001339330.1:p.His208Tyr, NP_001294956.1:p.His438Tyr, NP_001299850.1:p.His208Tyr

Select item 144853714515.

rs1448537145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124767766 (GRCh38)
11:124637662 (GRCh37)
Canonical SPDI:: NC_000011.10:124767765:G:A
Gene:: MSANTD2 (Varview)
Functional Consequence:: stop_gained,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767766G>A, NC_000011.9:g.124637662G>A, NM_024631.4:c.934C>T, NM_024631.3:c.934C>T, NM_024631.2:c.934C>T, NM_001312920.2:c.400C>T, NM_001312920.1:c.400C>T, NM_001352400.2:c.400C>T, NM_001352400.1:c.400C>T, NM_001352401.2:c.400C>T, NM_001352401.1:c.400C>T, NM_001308027.2:c.1090C>T, NM_001308027.1:c.1090C>T, NM_001312921.2:c.400C>T, NM_001312921.1:c.400C>T, NM_001312919.2:c.*294C>T, NM_001312919.1:c.*294C>T, NM_001301087.1:c.400C>T, NR_131749.1:n.858C>T, NP_078907.2:p.Gln312Ter, NP_001299849.1:p.Gln134Ter, NP_001339329.1:p.Gln134Ter, NP_001339330.1:p.Gln134Ter, NP_001294956.1:p.Gln364Ter, NP_001299850.1:p.Gln134Ter

Select item 144536680116.

rs1445366801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124773011 (GRCh38)
11:124642907 (GRCh37)
Canonical SPDI:: NC_000011.10:124773010:C:T
Gene:: MSANTD2 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_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_000011.10:g.124773011C>T, NC_000011.9:g.124642907C>T, NM_024631.4:c.654G>A, NM_024631.3:c.654G>A, NM_024631.2:c.654G>A, NM_001312920.2:c.120G>A, NM_001312920.1:c.120G>A, NM_001352400.2:c.120G>A, NM_001352400.1:c.120G>A, NM_001352401.2:c.120G>A, NM_001352401.1:c.120G>A, NM_001308027.2:c.810G>A, NM_001308027.1:c.810G>A, NM_001312921.2:c.120G>A, NM_001312921.1:c.120G>A, NM_001312919.2:c.*14G>A, NM_001312919.1:c.*14G>A, NM_001301087.1:c.120G>A, NR_131749.1:n.578G>A

Select item 144475107317.

rs1444751073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124767682 (GRCh38)
11:124637578 (GRCh37)
Canonical SPDI:: NC_000011.10:124767681:T:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767682T>C, NC_000011.9:g.124637578T>C, NM_024631.4:c.1018A>G, NM_024631.3:c.1018A>G, NM_024631.2:c.1018A>G, NM_001312920.2:c.484A>G, NM_001312920.1:c.484A>G, NM_001352400.2:c.484A>G, NM_001352400.1:c.484A>G, NM_001352401.2:c.484A>G, NM_001352401.1:c.484A>G, NM_001308027.2:c.1174A>G, NM_001308027.1:c.1174A>G, NM_001312921.2:c.484A>G, NM_001312921.1:c.484A>G, NM_001312919.2:c.*378A>G, NM_001312919.1:c.*378A>G, NM_001301087.1:c.484A>G, NR_131749.1:n.942A>G, NP_078907.2:p.Ile340Val, NP_001299849.1:p.Ile162Val, NP_001339329.1:p.Ile162Val, NP_001339330.1:p.Ile162Val, NP_001294956.1:p.Ile392Val, NP_001299850.1:p.Ile162Val

Select item 144447724618.

rs1444477246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124773043 (GRCh38)
11:124642939 (GRCh37)
Canonical SPDI:: NC_000011.10:124773042:C:T
Gene:: MSANTD2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_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_000011.10:g.124773043C>T, NC_000011.9:g.124642939C>T, NM_024631.4:c.622G>A, NM_024631.3:c.622G>A, NM_024631.2:c.622G>A, NM_001312920.2:c.88G>A, NM_001312920.1:c.88G>A, NM_001352400.2:c.88G>A, NM_001352400.1:c.88G>A, NM_001352401.2:c.88G>A, NM_001352401.1:c.88G>A, NM_001308027.2:c.778G>A, NM_001308027.1:c.778G>A, NM_001312921.2:c.88G>A, NM_001312921.1:c.88G>A, NM_001312919.2:c.522G>A, NM_001312919.1:c.522G>A, NM_001301087.1:c.88G>A, NR_131749.1:n.546G>A, NP_078907.2:p.Val208Ile, NP_001299849.1:p.Val30Ile, NP_001339329.1:p.Val30Ile, NP_001339330.1:p.Val30Ile, NP_001294956.1:p.Val260Ile, NP_001299850.1:p.Val30Ile

Select item 143960119619.

rs1439601196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:124767397 (GRCh38)
11:124637293 (GRCh37)
Canonical SPDI:: NC_000011.10:124767396:G:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124767397G>C, NC_000011.9:g.124637293G>C, NM_024631.4:c.1303C>G, NM_024631.3:c.1303C>G, NM_024631.2:c.1303C>G, NM_001312920.2:c.769C>G, NM_001312920.1:c.769C>G, NM_001352400.2:c.769C>G, NM_001352400.1:c.769C>G, NM_001352401.2:c.769C>G, NM_001352401.1:c.769C>G, NM_001308027.2:c.1459C>G, NM_001308027.1:c.1459C>G, NM_001312921.2:c.769C>G, NM_001312921.1:c.769C>G, NM_001312919.2:c.*663C>G, NM_001312919.1:c.*663C>G, NM_001301087.1:c.769C>G, NR_131749.1:n.1227C>G, NP_078907.2:p.Gln435Glu, NP_001299849.1:p.Gln257Glu, NP_001339329.1:p.Gln257Glu, NP_001339330.1:p.Gln257Glu, NP_001294956.1:p.Gln487Glu, NP_001299850.1:p.Gln257Glu

Select item 143016063020.

rs1430160630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:124767419 (GRCh38)
11:124637315 (GRCh37)
Canonical SPDI:: NC_000011.10:124767418:A:C
Gene:: MSANTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124767419A>C, NC_000011.9:g.124637315A>C, NM_024631.4:c.1281T>G, NM_024631.3:c.1281T>G, NM_024631.2:c.1281T>G, NM_001312920.2:c.747T>G, NM_001312920.1:c.747T>G, NM_001352400.2:c.747T>G, NM_001352400.1:c.747T>G, NM_001352401.2:c.747T>G, NM_001352401.1:c.747T>G, NM_001308027.2:c.1437T>G, NM_001308027.1:c.1437T>G, NM_001312921.2:c.747T>G, NM_001312921.1:c.747T>G, NM_001312919.2:c.*641T>G, NM_001312919.1:c.*641T>G, NM_001301087.1:c.747T>G, NR_131749.1:n.1205T>G, NP_078907.2:p.Ile427Met, NP_001299849.1:p.Ile249Met, NP_001339329.1:p.Ile249Met, NP_001339330.1:p.Ile249Met, NP_001294956.1:p.Ile479Met, NP_001299850.1:p.Ile249Met

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