Canonical Allele Identifier: CA350792464

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215797439C>A (hg19) ; chr2:g.214932715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932715C>A , CM000664.2:g.214932715C>A	GRCh38
NC_000002.11:g.215797439C>A , CM000664.1:g.215797439C>A	GRCh37
NC_000002.10:g.215505684C>A	NCBI36
NG_007074.1:g.210713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7707G>T (ABCA12) MANE Select	ENSP00000272895.7:p.Gln2569His
ENST00000272895.11:c.7707G>T (ABCA12)	ENSP00000272895.7:p.Gln2569His
ENST00000389661.4:c.6753G>T (ABCA12)	ENSP00000374312.4:p.Gln2251His
NM_015657.3:c.6753G>T (ABCA12)	NP_056472.2:p.Gln2251His
NM_173076.2:c.7707G>T (ABCA12)	NP_775099.2:p.Gln2569His
NR_103740.1:n.8007G>T (ABCA12)
NR_110292.1:n.322-15110C>A (SNHG31)
XM_011510951.1:c.7716G>T (ABCA12)	XP_011509253.1:p.Gln2572His
XM_011510951.2:c.7716G>T (ABCA12)	XP_011509253.1:p.Gln2572His
NM_173076.3:c.7707G>T (ABCA12) MANE Select	NP_775099.2:p.Gln2569His
NR_103740.2:n.8205G>T (ABCA12)
NM_015657.4:c.6753G>T (ABCA12)	NP_056472.2:p.Gln2251His