Canonical Allele Identifier: CA431151465

Gene: ABCA12

Linked Data

• dbSNP Id: rs1305401293
• gnomAD v2: 2-215876260-A-G
• MyVariant Identifiers: chr2:g.215876260A>G (hg19) ; chr2:g.215011536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011536A>G , CM000664.2:g.215011536A>G	GRCh38
NC_000002.11:g.215876260A>G , CM000664.1:g.215876260A>G	GRCh37
NC_000002.10:g.215584505A>G	NCBI36
NG_007074.1:g.131892T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2235T>C MANE Select	ENSP00000272895.7:p.Ser745=
ENST00000272895.11:c.2235T>C	ENSP00000272895.7:p.Ser745=
ENST00000389661.4:c.1281T>C	ENSP00000374312.4:p.Ser427=
NM_015657.3:c.1281T>C	NP_056472.2:p.Ser427=
NM_173076.2:c.2235T>C	NP_775099.2:p.Ser745=
NR_103740.1:n.2479T>C
XM_011510951.1:c.2235T>C	XP_011509253.1:p.Ser745=
XM_011510952.1:c.2235T>C	XP_011509254.1:p.Ser745=
XM_011510951.2:c.2235T>C	XP_011509253.1:p.Ser745=
NM_173076.3:c.2235T>C MANE Select	NP_775099.2:p.Ser745=
NR_103740.2:n.2677T>C
NM_015657.4:c.1281T>C	NP_056472.2:p.Ser427=