Canonical Allele Identifier: CA10577905
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233028
ClinVar RCV Id: RCV000221688
dbSNP Id: rs56062561
gnomAD v2: 2-47630235-G-A
gnomAD v3: 2-47403096-G-A
gnomAD v4: 2-47403096-G-A
MyVariant Identifiers: chr2:g.47630235G>A (hg19) chr2:g.47403096G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403096G>A , CM000664.2:g.47403096G>A GRCh38
NC_000002.11:g.47630235G>A , CM000664.1:g.47630235G>A GRCh37
NC_000002.10:g.47483739G>A NCBI36
NG_007110.2:g.4973G>A , LRG_218:g.4973G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-110G>A ENSP00000442697.1:n.-110G>A
ENST00000233146.6:c.-96G>A ENSP00000233146.2:n.-96G>A
ENST00000454849.5:c.-110G>A ENSP00000411482.1:n.-110G>A
ENST00000543555.5:c.-110G>A ENSP00000442697.1:n.-110G>A
NM_000251.2:c.-96G>A , LRG_218t1:c.-96G>A NP_000242.1:n.-96G>A
NM_001258281.1:c.-110G>A NP_001245210.1:n.-110G>A
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