Canonical Allele Identifier: CA2092235
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 334266
ClinVar RCV Id: RCV000356196 RCV001464963
dbSNP Id: rs370640837
ExAC: 2:215884381 G / A
gnomAD v2: 2-215884381-G-A
gnomAD v3: 2-215019657-G-A
gnomAD v4: 2-215019657-G-A
COSMIC: COSM84688 COSM4091068
MyVariant Identifiers: chr2:g.215884381G>A (hg19) chr2:g.215019657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019657G>A , CM000664.2:g.215019657G>A GRCh38
NC_000002.11:g.215884381G>A , CM000664.1:g.215884381G>A GRCh37
NC_000002.10:g.215592626G>A NCBI36
NG_007074.1:g.123771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1427C>T MANE Select ENSP00000272895.7:p.Ala476Val
ENST00000272895.11:c.1427C>T ENSP00000272895.7:p.Ala476Val
ENST00000389661.4:c.473C>T ENSP00000374312.4:p.Ala158Val
NM_015657.3:c.473C>T NP_056472.2:p.Ala158Val
NM_173076.2:c.1427C>T NP_775099.2:p.Ala476Val
NR_103740.1:n.1671C>T
XM_011510951.1:c.1427C>T XP_011509253.1:p.Ala476Val
XM_011510952.1:c.1427C>T XP_011509254.1:p.Ala476Val
XM_011510951.2:c.1427C>T XP_011509253.1:p.Ala476Val
NM_173076.3:c.1427C>T MANE Select NP_775099.2:p.Ala476Val
NR_103740.2:n.1869C>T
NM_015657.4:c.473C>T NP_056472.2:p.Ala158Val
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