Canonical Allele Identifier: CA350483690

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215876304A>G (hg19) ; chr2:g.215011580A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011580A>G , CM000664.2:g.215011580A>G	GRCh38
NC_000002.11:g.215876304A>G , CM000664.1:g.215876304A>G	GRCh37
NC_000002.10:g.215584549A>G	NCBI36
NG_007074.1:g.131848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2191T>C MANE Select	ENSP00000272895.7:p.Ser731Pro
ENST00000272895.11:c.2191T>C	ENSP00000272895.7:p.Ser731Pro
ENST00000389661.4:c.1237T>C	ENSP00000374312.4:p.Ser413Pro
NM_015657.3:c.1237T>C	NP_056472.2:p.Ser413Pro
NM_173076.2:c.2191T>C	NP_775099.2:p.Ser731Pro
NR_103740.1:n.2435T>C
XM_011510951.1:c.2191T>C	XP_011509253.1:p.Ser731Pro
XM_011510952.1:c.2191T>C	XP_011509254.1:p.Ser731Pro
XM_011510951.2:c.2191T>C	XP_011509253.1:p.Ser731Pro
NM_173076.3:c.2191T>C MANE Select	NP_775099.2:p.Ser731Pro
NR_103740.2:n.2633T>C
NM_015657.4:c.1237T>C	NP_056472.2:p.Ser413Pro