Canonical Allele Identifier: CA223271274
Gene: MS4A2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.60095780C>T
GRCh37 chr11:g.59863253C>T
gnomAD v2:
11:59863253 C / T
gnomAD v3:
11:60095780 C / T
gnomAD v4:
chr11-60095780-C-T
Joint Max Group AF 0.15613558 (EAS)
Genomes Max Group AF 0.16013796 (EAS)
Exomes Max Group AF 0.15428254 (EAS)
dbSNP:
512555
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.60095780C>T , CM000673.2:g.60095780C>T GRCh38
NC_000011.9:g.59863253C>T , CM000673.1:g.59863253C>T GRCh37
NC_000011.8:g.59619829C>T NCBI36
NG_016014.1:g.12117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278888.8:c.*124C>T MANE Select ENSP00000278888.3:n.*124C>T
ENST00000278888.7:c.*124C>T ENSP00000278888.3:n.*124C>T
ENST00000617306.1:c.*124C>T ENSP00000482594.1:n.*124C>T
NM_000139.4:c.*124C>T NP_000130.1:n.*124C>T
NM_001256916.1:c.*124C>T NP_001243845.1:n.*124C>T
XM_005273846.3:c.*124C>T XP_005273903.1:n.*124C>T
XM_011544850.1:c.*124C>T XP_011543152.1:n.*124C>T
XM_005273846.4:c.*124C>T XP_005273903.1:n.*124C>T
XM_011544850.2:c.*124C>T XP_011543152.1:n.*124C>T
NM_000139.5:c.*124C>T MANE Select NP_000130.1:n.*124C>T
NM_001256916.2:c.*124C>T NP_001243845.1:n.*124C>T
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