Canonical Allele Identifier: CA350446091

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818639G>T (hg19) ; chr2:g.214953915G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953915G>T , CM000664.2:g.214953915G>T	GRCh38
NC_000002.11:g.215818639G>T , CM000664.1:g.215818639G>T	GRCh37
NC_000002.10:g.215526884G>T	NCBI36
NG_007074.1:g.189513C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6586C>A (ABCA12) MANE Select	ENSP00000272895.7:p.Gln2196Lys
ENST00000272895.11:c.6586C>A (ABCA12)	ENSP00000272895.7:p.Gln2196Lys
ENST00000389661.4:c.5632C>A (ABCA12)	ENSP00000374312.4:p.Gln1878Lys
NM_015657.3:c.5632C>A (ABCA12)	NP_056472.2:p.Gln1878Lys
NM_173076.2:c.6586C>A (ABCA12)	NP_775099.2:p.Gln2196Lys
NR_103740.1:n.6886C>A (ABCA12)
NR_110292.1:n.444+5968G>T (SNHG31)
XM_011510951.1:c.6595C>A (ABCA12)	XP_011509253.1:p.Gln2199Lys
XM_011510951.2:c.6595C>A (ABCA12)	XP_011509253.1:p.Gln2199Lys
NM_173076.3:c.6586C>A (ABCA12) MANE Select	NP_775099.2:p.Gln2196Lys
NR_103740.2:n.7084C>A (ABCA12)
NM_015657.4:c.5632C>A (ABCA12)	NP_056472.2:p.Gln1878Lys