Canonical Allele Identifier: CA020684

Gene: MSH2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480766_47480767del , CM000664.2:g.47480766_47480767del	GRCh38
NC_000002.11:g.47707905_47707906del , CM000664.1:g.47707905_47707906del	GRCh37
NC_000002.10:g.47561409_47561410del	NCBI36
NG_007110.2:g.82643_82644del , LRG_218:g.82643_82644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2529_2530del	ENSP00000495641.2:p.Ala844Ter
ENST00000233146.7:c.2529_2530del MANE Select	ENSP00000233146.2:p.Ala844Ter
ENST00000543555.6:c.2331_2332del	ENSP00000442697.1:p.Ala778Ter
ENST00000644092.1:c.*829_*830del	ENSP00000496351.1:n.*829_*830del
ENST00000644900.1:c.382_383del
ENST00000645339.1:c.2529_2530del	ENSP00000496441.1:p.Ala844Ter
ENST00000645506.1:c.2529_2530del	ENSP00000495455.1:p.Ala844Ter
ENST00000646415.1:c.2529_2530del	ENSP00000495543.1:p.Ala844Ter
ENST00000233146.6:c.2529_2530del	ENSP00000233146.2:p.Ala844Ter
ENST00000406134.5:c.2529_2530del	ENSP00000384199.1:p.Ala844Ter
ENST00000543555.5:c.2331_2332del	ENSP00000442697.1:p.Ala778Ter
ENST00000610696.4:c.*925_*926del	ENSP00000483159.1:n.*925_*926del
ENST00000613514.4:c.*1069_*1070del	ENSP00000484137.1:n.*1069_*1070del
ENST00000617333.3:c.*1295_*1296del	ENSP00000482468.1:n.*1295_*1296del
ENST00000617938.4:c.*1501_*1502del	ENSP00000481158.1:n.*1501_*1502del
ENST00000621359.2:c.*95_*96del	ENSP00000481416.1:n.*95_*96del
NM_000251.2:c.2529_2530del , LRG_218t1:c.2529_2530del	NP_000242.1:p.Ala844Ter
NM_001258281.1:c.2331_2332del	NP_001245210.1:p.Ala778Ter
XM_005264332.2:c.2529_2530del	XP_005264389.2:p.Ala844Ter
XM_011532867.1:c.2529_2530del	XP_011531169.1:p.Ala844Ter
XR_939685.1:n.2601_2602del
XM_005264332.4:c.2529_2530del	XP_005264389.2:p.Ala844Ter
XM_011532867.2:c.2529_2530del	XP_011531169.1:p.Ala844Ter
XR_001738747.2:n.2591_2592del
XR_939685.2:n.2591_2592del
NM_000251.3:c.2529_2530del MANE Select	NP_000242.1:p.Ala844Ter