Canonical Allele Identifier: CA2091348

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 3002433
• ClinVar RCV Id: RCV003865560
• dbSNP Id: rs770933683
• ExAC: 2:215843573 G / A
• gnomAD v2: 2-215843573-G-A
• gnomAD v4: 2-214978849-G-A
• MyVariant Identifiers: chr2:g.215843573G>A (hg19) ; chr2:g.214978849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978849G>A , CM000664.2:g.214978849G>A	GRCh38
NC_000002.11:g.215843573G>A , CM000664.1:g.215843573G>A	GRCh37
NC_000002.10:g.215551818G>A	NCBI36
NG_007074.1:g.164579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4932C>T MANE Select	ENSP00000272895.7:p.Asp1644=
ENST00000272895.11:c.4932C>T	ENSP00000272895.7:p.Asp1644=
ENST00000389661.4:c.3978C>T	ENSP00000374312.4:p.Asp1326=
NM_015657.3:c.3978C>T	NP_056472.2:p.Asp1326=
NM_173076.2:c.4932C>T	NP_775099.2:p.Asp1644=
NR_103740.1:n.5232C>T
XM_011510951.1:c.4941C>T	XP_011509253.1:p.Asp1647=
XM_011510952.1:c.4941C>T	XP_011509254.1:p.Asp1647=
XM_011510951.2:c.4941C>T	XP_011509253.1:p.Asp1647=
NM_173076.3:c.4932C>T MANE Select	NP_775099.2:p.Asp1644=
NR_103740.2:n.5430C>T
NM_015657.4:c.3978C>T	NP_056472.2:p.Asp1326=