Canonical Allele Identifier: CA350792390

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215797406T>A (hg19) ; chr2:g.214932682T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932682T>A , CM000664.2:g.214932682T>A	GRCh38
NC_000002.11:g.215797406T>A , CM000664.1:g.215797406T>A	GRCh37
NC_000002.10:g.215505651T>A	NCBI36
NG_007074.1:g.210746A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7740A>T (ABCA12) MANE Select	ENSP00000272895.7:p.Gln2580His
ENST00000272895.11:c.7740A>T (ABCA12)	ENSP00000272895.7:p.Gln2580His
ENST00000389661.4:c.6786A>T (ABCA12)	ENSP00000374312.4:p.Gln2262His
NM_015657.3:c.6786A>T (ABCA12)	NP_056472.2:p.Gln2262His
NM_173076.2:c.7740A>T (ABCA12)	NP_775099.2:p.Gln2580His
NR_103740.1:n.8040A>T (ABCA12)
NR_110292.1:n.322-15143T>A (SNHG31)
XM_011510951.1:c.7749A>T (ABCA12)	XP_011509253.1:p.Gln2583His
XM_011510951.2:c.7749A>T (ABCA12)	XP_011509253.1:p.Gln2583His
NM_173076.3:c.7740A>T (ABCA12) MANE Select	NP_775099.2:p.Gln2580His
NR_103740.2:n.8238A>T (ABCA12)
NM_015657.4:c.6786A>T (ABCA12)	NP_056472.2:p.Gln2262His