Canonical Allele Identifier: CA350446088

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818638T>A (hg19) ; chr2:g.214953914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953914T>A , CM000664.2:g.214953914T>A	GRCh38
NC_000002.11:g.215818638T>A , CM000664.1:g.215818638T>A	GRCh37
NC_000002.10:g.215526883T>A	NCBI36
NG_007074.1:g.189514A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6587A>T (ABCA12) MANE Select	ENSP00000272895.7:p.Gln2196Leu
ENST00000272895.11:c.6587A>T (ABCA12)	ENSP00000272895.7:p.Gln2196Leu
ENST00000389661.4:c.5633A>T (ABCA12)	ENSP00000374312.4:p.Gln1878Leu
NM_015657.3:c.5633A>T (ABCA12)	NP_056472.2:p.Gln1878Leu
NM_173076.2:c.6587A>T (ABCA12)	NP_775099.2:p.Gln2196Leu
NR_103740.1:n.6887A>T (ABCA12)
NR_110292.1:n.444+5967T>A (SNHG31)
XM_011510951.1:c.6596A>T (ABCA12)	XP_011509253.1:p.Gln2199Leu
XM_011510951.2:c.6596A>T (ABCA12)	XP_011509253.1:p.Gln2199Leu
NM_173076.3:c.6587A>T (ABCA12) MANE Select	NP_775099.2:p.Gln2196Leu
NR_103740.2:n.7085A>T (ABCA12)
NM_015657.4:c.5633A>T (ABCA12)	NP_056472.2:p.Gln1878Leu