Canonical Allele Identifier: CA350460669

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215845208T>G (hg19) ; chr2:g.214980484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980484T>G , CM000664.2:g.214980484T>G	GRCh38
NC_000002.11:g.215845208T>G , CM000664.1:g.215845208T>G	GRCh37
NC_000002.10:g.215553453T>G	NCBI36
NG_007074.1:g.162944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4739A>C MANE Select	ENSP00000272895.7:p.Lys1580Thr
ENST00000272895.11:c.4739A>C	ENSP00000272895.7:p.Lys1580Thr
ENST00000389661.4:c.3785A>C	ENSP00000374312.4:p.Lys1262Thr
NM_015657.3:c.3785A>C	NP_056472.2:p.Lys1262Thr
NM_173076.2:c.4739A>C	NP_775099.2:p.Lys1580Thr
NR_103740.1:n.5039A>C
XM_011510951.1:c.4748A>C	XP_011509253.1:p.Lys1583Thr
XM_011510952.1:c.4748A>C	XP_011509254.1:p.Lys1583Thr
XM_011510951.2:c.4748A>C	XP_011509253.1:p.Lys1583Thr
NM_173076.3:c.4739A>C MANE Select	NP_775099.2:p.Lys1580Thr
NR_103740.2:n.5237A>C
NM_015657.4:c.3785A>C	NP_056472.2:p.Lys1262Thr