Canonical Allele Identifier: CA350792307

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs749635730
• gnomAD v2: 2-215797368-A-G
• MyVariant Identifiers: chr2:g.215797368A>G (hg19) ; chr2:g.214932644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932644A>G , CM000664.2:g.214932644A>G	GRCh38
NC_000002.11:g.215797368A>G , CM000664.1:g.215797368A>G	GRCh37
NC_000002.10:g.215505613A>G	NCBI36
NG_007074.1:g.210784T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7778T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Met2593Thr
ENST00000272895.11:c.7778T>C (ABCA12)	ENSP00000272895.7:p.Met2593Thr
ENST00000389661.4:c.6824T>C (ABCA12)	ENSP00000374312.4:p.Met2275Thr
NM_015657.3:c.6824T>C (ABCA12)	NP_056472.2:p.Met2275Thr
NM_173076.2:c.7778T>C (ABCA12)	NP_775099.2:p.Met2593Thr
NR_103740.1:n.8078T>C (ABCA12)
NR_110292.1:n.322-15181A>G (SNHG31)
XM_011510951.1:c.7787T>C (ABCA12)	XP_011509253.1:p.Met2596Thr
XM_011510951.2:c.7787T>C (ABCA12)	XP_011509253.1:p.Met2596Thr
NM_173076.3:c.7778T>C (ABCA12) MANE Select	NP_775099.2:p.Met2593Thr
NR_103740.2:n.8276T>C (ABCA12)
NM_015657.4:c.6824T>C (ABCA12)	NP_056472.2:p.Met2275Thr