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Items: 1 to 20 of 2059

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Select item 14915072931.

rs1491507293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:232405108 (GRCh38)
2:233269818 (GRCh37)
Canonical SPDI:: NC_000002.12:232405106:TAT:T
Gene:: ALPG (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.232405108_232405109del, NC_000002.11:g.233269818_233269819del

Select item 14911534462.

rs1491153446 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:232408424 (GRCh38)
2:233273134 (GRCh37)
Canonical SPDI:: NC_000002.12:232408423:CT:
Gene:: ALPG (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.232408424_232408425del, NC_000002.11:g.233273134_233273135del

Select item 14907941223.

rs1490794122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232408271 (GRCh38)
2:233272981 (GRCh37)
Canonical SPDI:: NC_000002.12:232408270:T:C
Gene:: ALPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.232408271T>C, NC_000002.11:g.233272981T>C, NM_031313.3:c.653T>C, NM_031313.2:c.653T>C, NP_112603.2:p.Ile218Thr

Select item 14907375894.

rs1490737589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:232408062 (GRCh38)
2:233272772 (GRCh37)
Canonical SPDI:: NC_000002.12:232408061:G:T
Gene:: ALPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232408062G>T, NC_000002.11:g.233272772G>T, NG_082872.1:g.1255G>T

Select item 14904610265.

rs1490461026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232408723 (GRCh38)
2:233273433 (GRCh37)
Canonical SPDI:: NC_000002.12:232408722:C:T
Gene:: ALPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.232408723C>T, NC_000002.11:g.233273433C>T, NM_031313.3:c.876C>T, NM_031313.2:c.876C>T

Select item 14902481856.

rs1490248185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232409421 (GRCh38)
2:233274131 (GRCh37)
Canonical SPDI:: NC_000002.12:232409420:C:T
Gene:: ALPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000002.12:g.232409421C>T, NC_000002.11:g.233274131C>T, NM_031313.3:c.1273C>T, NM_031313.2:c.1273C>T, NP_112603.2:p.Arg425Trp

Select item 14900070437.

rs1490007043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:232405071 (GRCh38)
2:233269781 (GRCh37)
Canonical SPDI:: NC_000002.12:232405070:G:C
Gene:: ALPG (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.232405071G>C, NC_000002.11:g.233269781G>C

Select item 14898065088.

rs1489806508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:232409316 (GRCh38)
2:233274026 (GRCh37)
Canonical SPDI:: NC_000002.12:232409315:A:T
Gene:: ALPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.232409316A>T, NC_000002.11:g.233274026A>T

Select item 14895172169.

rs1489517216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232406995 (GRCh38)
2:233271705 (GRCh37)
Canonical SPDI:: NC_000002.12:232406994:C:A
Gene:: ALPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.232406995C>A, NC_000002.11:g.233271705C>A, NG_082872.1:g.188C>A

Select item 148950892710.

rs1489508927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232407337 (GRCh38)
2:233272047 (GRCh37)
Canonical SPDI:: NC_000002.12:232407336:A:G
Gene:: ALPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232407337A>G, NC_000002.11:g.233272047A>G, NG_082872.1:g.530A>G, NM_031313.3:c.236A>G, NM_031313.2:c.236A>G, NP_112603.2:p.Lys79Arg

Select item 148894903811.

rs1488949038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232410292 (GRCh38)
2:233275002 (GRCh37)
Canonical SPDI:: NC_000002.12:232410291:A:G
Gene:: ALPG (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.232410292A>G, NC_000002.11:g.233275002A>G, NM_031313.3:c.*420A>G, NM_031313.2:c.*420A>G

Select item 148893337712.

rs1488933377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232408559 (GRCh38)
2:233273269 (GRCh37)
Canonical SPDI:: NC_000002.12:232408558:T:C
Gene:: ALPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232408559T>C, NC_000002.11:g.233273269T>C, NM_031313.3:c.842T>C, NM_031313.2:c.842T>C, NP_112603.2:p.Val281Ala

Select item 148843316413.

rs1488433164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232408269 (GRCh38)
2:233272979 (GRCh37)
Canonical SPDI:: NC_000002.12:232408268:G:A
Gene:: ALPG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232408269G>A, NC_000002.11:g.233272979G>A, NM_031313.3:c.651G>A, NM_031313.2:c.651G>A

Select item 148840060814.

rs1488400608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232407210 (GRCh38)
2:233271920 (GRCh37)
Canonical SPDI:: NC_000002.12:232407209:C:T
Gene:: ALPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232407210C>T, NC_000002.11:g.233271920C>T, NG_082872.1:g.403C>T

Select item 148816906415.

rs1488169064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232409896 (GRCh38)
2:233274606 (GRCh37)
Canonical SPDI:: NC_000002.12:232409895:C:A
Gene:: ALPG (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000002.12:g.232409896C>A, NC_000002.11:g.233274606C>A, NM_031313.3:c.*24C>A, NM_031313.2:c.*24C>A

Select item 148729785016.

rs1487297850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232406320 (GRCh38)
2:233271030 (GRCh37)
Canonical SPDI:: NC_000002.12:232406319:C:A
Gene:: ALPG (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.232406320C>A, NC_000002.11:g.233271030C>A

Select item 148721266717.

rs1487212667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:232407689 (GRCh38)
2:233272399 (GRCh37)
Canonical SPDI:: NC_000002.12:232407688:T:A
Gene:: ALPG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232407689T>A, NC_000002.11:g.233272399T>A, NG_082872.1:g.882T>A, NM_031313.3:c.396T>A, NM_031313.2:c.396T>A, NP_112603.2:p.Ser132Arg

Select item 148699133118.

rs1486991331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:232410782 (GRCh38)
2:233275492 (GRCh37)
Canonical SPDI:: NC_000002.12:232410781:A:C
Gene:: ALPG (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000002.12:g.232410782A>C, NC_000002.11:g.233275492A>C

Select item 148689066519.

rs1486890665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232409244 (GRCh38)
2:233273954 (GRCh37)
Canonical SPDI:: NC_000002.12:232409243:T:C
Gene:: ALPG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.232409244T>C, NC_000002.11:g.233273954T>C

Select item 148658572020.

rs1486585720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:232406147 (GRCh38)
2:233270857 (GRCh37)
Canonical SPDI:: NC_000002.12:232406146:C:G
Gene:: ALPG (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.232406147C>G, NC_000002.11:g.233270857C>G

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