Canonical Allele Identifier: CA350445962

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818578C>T (hg19) ; chr2:g.214953854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953854C>T , CM000664.2:g.214953854C>T	GRCh38
NC_000002.11:g.215818578C>T , CM000664.1:g.215818578C>T	GRCh37
NC_000002.10:g.215526823C>T	NCBI36
NG_007074.1:g.189574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6647G>A (ABCA12) MANE Select	ENSP00000272895.7:p.Arg2216Lys
ENST00000272895.11:c.6647G>A (ABCA12)	ENSP00000272895.7:p.Arg2216Lys
ENST00000389661.4:c.5693G>A (ABCA12)	ENSP00000374312.4:p.Arg1898Lys
NM_015657.3:c.5693G>A (ABCA12)	NP_056472.2:p.Arg1898Lys
NM_173076.2:c.6647G>A (ABCA12)	NP_775099.2:p.Arg2216Lys
NR_103740.1:n.6947G>A (ABCA12)
NR_110292.1:n.444+5907C>T (SNHG31)
XM_011510951.1:c.6656G>A (ABCA12)	XP_011509253.1:p.Arg2219Lys
XM_011510951.2:c.6656G>A (ABCA12)	XP_011509253.1:p.Arg2219Lys
NM_173076.3:c.6647G>A (ABCA12) MANE Select	NP_775099.2:p.Arg2216Lys
NR_103740.2:n.7145G>A (ABCA12)
NM_015657.4:c.5693G>A (ABCA12)	NP_056472.2:p.Arg1898Lys