Canonical Allele Identifier: CA022022
Gene: MSH2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.47403124G>A
GRCh37 chr2:g.47630263G>A
gnomAD v2:
2:47630263 G / A
gnomAD v3:
2:47403124 G / A
gnomAD v4:
chr2-47403124-G-A
Joint Max Group AF 0.00009173 (AMR)
Genomes Max Group AF 0.00004725 (AFR)
Exomes Max Group AF 0.00013111 (AMR)
ClinVar Allele:
150862
ClinVar RCV:
RCV000129527
RCV000986640
ClinVar Variation:
141148
dbSNP:
576303132
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403124G>A , CM000664.2:g.47403124G>A GRCh38
NC_000002.11:g.47630263G>A , CM000664.1:g.47630263G>A GRCh37
NC_000002.10:g.47483767G>A NCBI36
NG_007110.2:g.5001G>A , LRG_218:g.5001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-82G>A ENSP00000442697.1:n.-82G>A
ENST00000644092.1:c.-68G>A ENSP00000496351.1:n.-68G>A
ENST00000645339.1:c.-68G>A ENSP00000496441.1:n.-68G>A
ENST00000645506.1:c.-68G>A ENSP00000495455.1:n.-68G>A
ENST00000646415.1:c.-68G>A ENSP00000495543.1:n.-68G>A
ENST00000233146.6:c.-68G>A ENSP00000233146.2:n.-68G>A
ENST00000454849.5:c.-82G>A ENSP00000411482.1:n.-82G>A
ENST00000543555.5:c.-82G>A ENSP00000442697.1:n.-82G>A
NM_000251.2:c.-68G>A , LRG_218t1:c.-68G>A NP_000242.1:n.-68G>A
NM_001258281.1:c.-82G>A NP_001245210.1:n.-82G>A
XM_005264332.2:c.-68G>A XP_005264389.2:n.-68G>A
XM_011532867.1:c.-68G>A XP_011531169.1:n.-68G>A
XR_939685.1:n.5G>A
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