Canonical Allele Identifier: CA2091099
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214966945A>C
GRCh37 chr2:g.215831669A>C
gnomAD v2:
2:215831669 A / C
gnomAD v3:
2:214966945 A / C
gnomAD v4:
chr2-214966945-A-C
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000276997
ClinVar Variation:
280169
dbSNP:
761557390
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214966945A>C , CM000664.2:g.214966945A>C GRCh38
NC_000002.11:g.215831669A>C , CM000664.1:g.215831669A>C GRCh37
NC_000002.10:g.215539914A>C NCBI36
NG_007074.1:g.176483T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.5787T>G MANE Select ENSP00000272895.7:p.Tyr1929Ter
ENST00000272895.11:c.5787T>G ENSP00000272895.7:p.Tyr1929Ter
ENST00000389661.4:c.4833T>G ENSP00000374312.4:p.Tyr1611Ter
NM_015657.3:c.4833T>G NP_056472.2:p.Tyr1611Ter
NM_173076.2:c.5787T>G NP_775099.2:p.Tyr1929Ter
NR_103740.1:n.6087T>G
XM_011510951.1:c.5796T>G XP_011509253.1:p.Tyr1932Ter
XM_011510952.1:c.5796T>G XP_011509254.1:p.Tyr1932Ter
XM_011510951.2:c.5796T>G XP_011509253.1:p.Tyr1932Ter
NM_173076.3:c.5787T>G MANE Select NP_775099.2:p.Tyr1929Ter
NR_103740.2:n.6285T>G
NM_015657.4:c.4833T>G NP_056472.2:p.Tyr1611Ter
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