Canonical Allele Identifier: CA380813605
Community Standard Title: NM_000139.5(MS4A2):c.710A>T (p.Glu237Val)
Gene: MS4A2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000139.5:c.710A>T MANE Select NP_000130.1:p.Glu237Val
ENST00000278888.8:c.710A>T MANE Select ENSP00000278888.3:p.Glu237Val
NM_000139.4:c.710A>T NP_000130.1:p.Glu237Val
NM_001256916.1:c.575A>T NP_001243845.1:p.Glu192Val
NM_001256916.2:c.575A>T NP_001243845.1:p.Glu192Val
ENST00000278888.7:c.710A>T ENSP00000278888.3:p.Glu237Val
ENST00000617306.1:c.575A>T ENSP00000482594.1:p.Glu192Val
XM_005273846.3:c.731A>T XP_005273903.1:p.Glu244Val
XM_005273846.4:c.731A>T XP_005273903.1:p.Glu244Val
XM_011544850.1:c.710A>T XP_011543152.1:p.Glu237Val
XM_011544850.2:c.710A>T XP_011543152.1:p.Glu237Val