Canonical Allele Identifier: CA350793943

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215812216C>T (hg19) ; chr2:g.214947492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947492C>T , CM000664.2:g.214947492C>T	GRCh38
NC_000002.11:g.215812216C>T , CM000664.1:g.215812216C>T	GRCh37
NC_000002.10:g.215520461C>T	NCBI36
NG_007074.1:g.195936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7169G>A (ABCA12) MANE Select	ENSP00000272895.7:p.Cys2390Tyr
ENST00000272895.11:c.7169G>A (ABCA12)	ENSP00000272895.7:p.Cys2390Tyr
ENST00000389661.4:c.6215G>A (ABCA12)	ENSP00000374312.4:p.Cys2072Tyr
NM_015657.3:c.6215G>A (ABCA12)	NP_056472.2:p.Cys2072Tyr
NM_173076.2:c.7169G>A (ABCA12)	NP_775099.2:p.Cys2390Tyr
NR_103740.1:n.7469G>A (ABCA12)
NR_110292.1:n.322-333C>T (SNHG31)
XM_011510951.1:c.7178G>A (ABCA12)	XP_011509253.1:p.Cys2393Tyr
XM_011510951.2:c.7178G>A (ABCA12)	XP_011509253.1:p.Cys2393Tyr
NM_173076.3:c.7169G>A (ABCA12) MANE Select	NP_775099.2:p.Cys2390Tyr
NR_103740.2:n.7667G>A (ABCA12)
NM_015657.4:c.6215G>A (ABCA12)	NP_056472.2:p.Cys2072Tyr