Canonical Allele Identifier: CA16617541

Gene: MSH2

Linked Data

• ClinVar Variation Id: 422521
• ClinVar RCV Id: RCV003593968
• dbSNP Id: rs1064795833
• gnomAD v3: 2-47403177-TGAG-T
• gnomAD v4: 2-47403177-TGAG-T
• MyVariant Identifiers: chr2:g.47630321_47630323del (hg19) ; chr2:g.47403182_47403184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403182_47403184del , CM000664.2:g.47403182_47403184del	GRCh38
NC_000002.11:g.47630321_47630323del , CM000664.1:g.47630321_47630323del	GRCh37
NC_000002.10:g.47483825_47483827del	NCBI36
NG_007110.2:g.5059_5061del , LRG_218:g.5059_5061del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.-10_-8del	ENSP00000495641.2:n.-10_-8del
ENST00000233146.7:c.-10_-8del MANE Select	ENSP00000233146.2:n.-10_-8del
ENST00000543555.6:c.-31+7_-31+9del	ENSP00000442697.1:n.-31+7_-31+9del
ENST00000644092.1:c.-10_-8del	ENSP00000496351.1:n.-10_-8del
ENST00000645339.1:c.-10_-8del	ENSP00000496441.1:n.-10_-8del
ENST00000645506.1:c.-10_-8del	ENSP00000495455.1:n.-10_-8del
ENST00000646415.1:c.-10_-8del	ENSP00000495543.1:n.-10_-8del
ENST00000233146.6:c.-10_-8del	ENSP00000233146.2:n.-10_-8del
ENST00000406134.5:c.-10_-8del	ENSP00000384199.1:n.-10_-8del
ENST00000454849.5:c.-31+7_-31+9del	ENSP00000411482.1:n.-31+7_-31+9del
ENST00000543555.5:c.-31+7_-31+9del	ENSP00000442697.1:n.-31+7_-31+9del
ENST00000610696.4:c.-10_-8del	ENSP00000483159.1:n.-10_-8del
ENST00000613514.4:c.-10_-8del	ENSP00000484137.1:n.-10_-8del
ENST00000617333.3:c.-10_-8del	ENSP00000482468.1:n.-10_-8del
ENST00000617938.4:c.-10_-8del	ENSP00000481158.1:n.-10_-8del
ENST00000621359.2:c.-10_-8del	ENSP00000481416.1:n.-10_-8del
NM_000251.2:c.-10_-8del , LRG_218t1:c.-10_-8del	NP_000242.1:n.-10_-8del
NM_001258281.1:c.-31+7_-31+9del	NP_001245210.1:n.-31+7_-31+9del
XM_005264332.2:c.-10_-8del	XP_005264389.2:n.-10_-8del
XM_011532867.1:c.-10_-8del	XP_011531169.1:n.-10_-8del
XR_939685.1:n.63_65del
XM_005264332.4:c.-10_-8del	XP_005264389.2:n.-10_-8del
XM_011532867.2:c.-10_-8del	XP_011531169.1:n.-10_-8del
XR_001738747.2:n.53_55del
XR_939685.2:n.53_55del
NM_000251.3:c.-10_-8del MANE Select	NP_000242.1:n.-10_-8del