Canonical Allele Identifier: CA021953
Gene: MSH2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.47403119G>A
GRCh37 chr2:g.47630258G>A
gnomAD v2:
2:47630258 G / A
gnomAD v3:
2:47403119 G / A
gnomAD v4:
chr2-47403119-G-A
Joint Max Group AF 0.01419167 (SAS)
Genomes Max Group AF 0.01231545 (SAS)
Exomes Max Group AF 0.01415781 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403119G>A , CM000664.2:g.47403119G>A GRCh38
NC_000002.11:g.47630258G>A , CM000664.1:g.47630258G>A GRCh37
NC_000002.10:g.47483762G>A NCBI36
NG_007110.2:g.4996G>A , LRG_218:g.4996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-87G>A ENSP00000442697.1:n.-87G>A
ENST00000644092.1:c.-73G>A ENSP00000496351.1:n.-73G>A
ENST00000645339.1:c.-73G>A ENSP00000496441.1:n.-73G>A
ENST00000645506.1:c.-73G>A ENSP00000495455.1:n.-73G>A
ENST00000646415.1:c.-73G>A ENSP00000495543.1:n.-73G>A
ENST00000233146.6:c.-73G>A ENSP00000233146.2:n.-73G>A
ENST00000454849.5:c.-87G>A ENSP00000411482.1:n.-87G>A
ENST00000543555.5:c.-87G>A ENSP00000442697.1:n.-87G>A
NM_000251.2:c.-73G>A , LRG_218t1:c.-73G>A NP_000242.1:n.-73G>A
NM_001258281.1:c.-87G>A NP_001245210.1:n.-87G>A
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