Canonical Allele Identifier: CA2092004

Gene: ABCA12

Linked Data

• dbSNP Id: rs758818623
• ExAC: 2:215876252 C / T
• gnomAD v2: 2-215876252-C-T
• gnomAD v4: 2-215011528-C-T
• MyVariant Identifiers: chr2:g.215876252C>T (hg19) ; chr2:g.215011528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011528C>T , CM000664.2:g.215011528C>T	GRCh38
NC_000002.11:g.215876252C>T , CM000664.1:g.215876252C>T	GRCh37
NC_000002.10:g.215584497C>T	NCBI36
NG_007074.1:g.131900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2243G>A MANE Select	ENSP00000272895.7:p.Arg748Lys
ENST00000272895.11:c.2243G>A	ENSP00000272895.7:p.Arg748Lys
ENST00000389661.4:c.1289G>A	ENSP00000374312.4:p.Arg430Lys
NM_015657.3:c.1289G>A	NP_056472.2:p.Arg430Lys
NM_173076.2:c.2243G>A	NP_775099.2:p.Arg748Lys
NR_103740.1:n.2487G>A
XM_011510951.1:c.2243G>A	XP_011509253.1:p.Arg748Lys
XM_011510952.1:c.2243G>A	XP_011509254.1:p.Arg748Lys
XM_011510951.2:c.2243G>A	XP_011509253.1:p.Arg748Lys
NM_173076.3:c.2243G>A MANE Select	NP_775099.2:p.Arg748Lys
NR_103740.2:n.2685G>A
NM_015657.4:c.1289G>A	NP_056472.2:p.Arg430Lys