Canonical Allele Identifier: CA380813604

Gene: MS4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.60095631A>C , CM000673.2:g.60095631A>C	GRCh38
NC_000011.9:g.59863104A>C , CM000673.1:g.59863104A>C	GRCh37
NC_000011.8:g.59619680A>C	NCBI36
NG_016014.1:g.11968A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000139.5:c.710A>C MANE Select	NP_000130.1:p.Glu237Ala
ENST00000278888.8:c.710A>C MANE Select	ENSP00000278888.3:p.Glu237Ala
NM_000139.4:c.710A>C	NP_000130.1:p.Glu237Ala
NM_001256916.1:c.575A>C	NP_001243845.1:p.Glu192Ala
NM_001256916.2:c.575A>C	NP_001243845.1:p.Glu192Ala
ENST00000278888.7:c.710A>C	ENSP00000278888.3:p.Glu237Ala
ENST00000617306.1:c.575A>C	ENSP00000482594.1:p.Glu192Ala
XM_005273846.3:c.731A>C	XP_005273903.1:p.Glu244Ala
XM_005273846.4:c.731A>C	XP_005273903.1:p.Glu244Ala
XM_011544850.1:c.710A>C	XP_011543152.1:p.Glu237Ala
XM_011544850.2:c.710A>C	XP_011543152.1:p.Glu237Ala