Canonical Allele Identifier: CA1649285

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2575365
• ClinVar RCV Id: RCV003320940
• dbSNP Id: rs201090022
• ExAC: 2:47702455 T / TG
• gnomAD v2: 2-47702455-T-TG
• gnomAD v3: 2-47475316-T-TG
• gnomAD v4: 2-47475316-T-TG
• MyVariant Identifiers: chr2:g.47702455_47702456insG (hg19) ; chr2:g.47475316_47475317insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475316_47475317insG , CM000664.2:g.47475316_47475317insG	GRCh38
NC_000002.11:g.47702455_47702456insG , CM000664.1:g.47702455_47702456insG	GRCh37
NC_000002.10:g.47555959_47555960insG	NCBI36
NG_007110.2:g.77193_77194insG , LRG_218:g.77193_77194insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+46_2005+47insG	ENSP00000495641.2:n.2005+46_2005+47insG
ENST00000233146.7:c.2005+46_2005+47insG MANE Select	ENSP00000233146.2:n.2005+46_2005+47insG
ENST00000543555.6:c.1807+46_1807+47insG	ENSP00000442697.1:n.1807+46_1807+47insG
ENST00000644092.1:c.*305+46_*305+47insG	ENSP00000496351.1:n.*305+46_*305+47insG
ENST00000645339.1:c.2005+46_2005+47insG	ENSP00000496441.1:n.2005+46_2005+47insG
ENST00000645506.1:c.2005+46_2005+47insG	ENSP00000495455.1:n.2005+46_2005+47insG
ENST00000646415.1:c.2005+46_2005+47insG	ENSP00000495543.1:n.2005+46_2005+47insG
ENST00000233146.6:c.2005+46_2005+47insG	ENSP00000233146.2:n.2005+46_2005+47insG
ENST00000406134.5:c.2005+46_2005+47insG	ENSP00000384199.1:n.2005+46_2005+47insG
ENST00000543555.5:c.1807+46_1807+47insG	ENSP00000442697.1:n.1807+46_1807+47insG
ENST00000610696.4:c.*401+46_*401+47insG	ENSP00000483159.1:n.*401+46_*401+47insG
ENST00000613514.4:c.*545+46_*545+47insG	ENSP00000484137.1:n.*545+46_*545+47insG
ENST00000617333.3:c.*771+46_*771+47insG	ENSP00000482468.1:n.*771+46_*771+47insG
ENST00000617938.4:c.*977+46_*977+47insG	ENSP00000481158.1:n.*977+46_*977+47insG
ENST00000621359.2:c.2005+46_2005+47insG	ENSP00000481416.1:n.2005+46_2005+47insG
NM_000251.2:c.2005+46_2005+47insG , LRG_218t1:c.2005+46_2005+47insG	NP_000242.1:n.2005+46_2005+47insG
NM_001258281.1:c.1807+46_1807+47insG	NP_001245210.1:n.1807+46_1807+47insG
XM_005264332.2:c.2005+46_2005+47insG	XP_005264389.2:n.2005+46_2005+47insG
XM_011532867.1:c.2005+46_2005+47insG	XP_011531169.1:n.2005+46_2005+47insG
XR_939685.1:n.2077+46_2077+47insG
XM_005264332.4:c.2005+46_2005+47insG	XP_005264389.2:n.2005+46_2005+47insG
XM_011532867.2:c.2005+46_2005+47insG	XP_011531169.1:n.2005+46_2005+47insG
XR_001738747.2:n.2067+46_2067+47insG
XR_939685.2:n.2067+46_2067+47insG
NM_000251.3:c.2005+46_2005+47insG MANE Select	NP_000242.1:n.2005+46_2005+47insG