Canonical Allele Identifier: CA350445963

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818579T>A (hg19) ; chr2:g.214953855T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953855T>A , CM000664.2:g.214953855T>A	GRCh38
NC_000002.11:g.215818579T>A , CM000664.1:g.215818579T>A	GRCh37
NC_000002.10:g.215526824T>A	NCBI36
NG_007074.1:g.189573A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6646A>T (ABCA12) MANE Select	ENSP00000272895.7:p.Arg2216Trp
ENST00000272895.11:c.6646A>T (ABCA12)	ENSP00000272895.7:p.Arg2216Trp
ENST00000389661.4:c.5692A>T (ABCA12)	ENSP00000374312.4:p.Arg1898Trp
NM_015657.3:c.5692A>T (ABCA12)	NP_056472.2:p.Arg1898Trp
NM_173076.2:c.6646A>T (ABCA12)	NP_775099.2:p.Arg2216Trp
NR_103740.1:n.6946A>T (ABCA12)
NR_110292.1:n.444+5908T>A (SNHG31)
XM_011510951.1:c.6655A>T (ABCA12)	XP_011509253.1:p.Arg2219Trp
XM_011510951.2:c.6655A>T (ABCA12)	XP_011509253.1:p.Arg2219Trp
NM_173076.3:c.6646A>T (ABCA12) MANE Select	NP_775099.2:p.Arg2216Trp
NR_103740.2:n.7144A>T (ABCA12)
NM_015657.4:c.5692A>T (ABCA12)	NP_056472.2:p.Arg1898Trp