Canonical Allele Identifier: CA017413
Gene: MSH2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.47403076G>T
GRCh37 chr2:g.47630215G>T
gnomAD v2:
2:47630215 G / T
gnomAD v3:
2:47403076 G / T
gnomAD v4:
chr2-47403076-G-T
Joint Max Group AF 0.00014358 (NFE)
Genomes Max Group AF 0.0001349 (NFE)
Exomes Max Group AF 0.00013732 (NFE)
ClinVar Allele:
152590
ClinVar RCV:
RCV000132335
RCV000405263
ClinVar Variation:
142876
dbSNP:
587782786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403076G>T , CM000664.2:g.47403076G>T GRCh38
NC_000002.11:g.47630215G>T , CM000664.1:g.47630215G>T GRCh37
NC_000002.10:g.47483719G>T NCBI36
NG_007110.2:g.4953G>T , LRG_218:g.4953G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-130G>T ENSP00000442697.1:n.-130G>T
ENST00000233146.6:c.-116G>T ENSP00000233146.2:n.-116G>T
ENST00000454849.5:c.-130G>T ENSP00000411482.1:n.-130G>T
ENST00000543555.5:c.-130G>T ENSP00000442697.1:n.-130G>T
NM_000251.2:c.-116G>T , LRG_218t1:c.-116G>T NP_000242.1:n.-116G>T
NM_001258281.1:c.-130G>T NP_001245210.1:n.-130G>T
Search 100 bp 5'
Search 100 bp 3'