Canonical Allele Identifier: CA2499216064

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1049861
• ClinVar RCV Id: RCV001356500 ; RCV002547635
• dbSNP Id: rs2104371537

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476425_47476426delinsAA , CM000664.2:g.47476425_47476426delinsAA	GRCh38
NC_000002.11:g.47703564_47703565delinsAA , CM000664.1:g.47703564_47703565delinsAA	GRCh37
NC_000002.10:g.47557068_47557069delinsAA	NCBI36
NG_007110.2:g.78302_78303delinsAA , LRG_218:g.78302_78303delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2064_2065delinsAA	ENSP00000495641.2:p.Met688_Ala689delinsIleThr
ENST00000233146.7:c.2064_2065delinsAA MANE Select	ENSP00000233146.2:p.Met688_Ala689delinsIleThr
ENST00000543555.6:c.1866_1867delinsAA	ENSP00000442697.1:p.Met622_Ala623delinsIleThr
ENST00000644092.1:c.*364_*365delinsAA	ENSP00000496351.1:n.*364_*365delinsAA
ENST00000645339.1:c.2064_2065delinsAA	ENSP00000496441.1:p.Met688_Ala689delinsIleThr
ENST00000645506.1:c.2064_2065delinsAA	ENSP00000495455.1:p.Met688_Ala689delinsIleThr
ENST00000646415.1:c.2064_2065delinsAA	ENSP00000495543.1:p.Met688_Ala689delinsIleThr
ENST00000233146.6:c.2064_2065delinsAA	ENSP00000233146.2:p.Met688_Ala689delinsIleThr
ENST00000406134.5:c.2064_2065delinsAA	ENSP00000384199.1:p.Met688_Ala689delinsIleThr
ENST00000543555.5:c.1866_1867delinsAA	ENSP00000442697.1:p.Met622_Ala623delinsIleThr
ENST00000610696.4:c.*460_*461delinsAA	ENSP00000483159.1:n.*460_*461delinsAA
ENST00000613514.4:c.*604_*605delinsAA	ENSP00000484137.1:n.*604_*605delinsAA
ENST00000617333.3:c.*830_*831delinsAA	ENSP00000482468.1:n.*830_*831delinsAA
ENST00000617938.4:c.*1036_*1037delinsAA	ENSP00000481158.1:n.*1036_*1037delinsAA
ENST00000621359.2:c.2064_2065delinsAA	ENSP00000481416.1:p.Met688_Ala689delinsIleThr
NM_000251.2:c.2064_2065delinsAA , LRG_218t1:c.2064_2065delinsAA	NP_000242.1:p.Met688_Ala689delinsIleThr
NM_001258281.1:c.1866_1867delinsAA	NP_001245210.1:p.Met622_Ala623delinsIleThr
XM_005264332.2:c.2064_2065delinsAA	XP_005264389.2:p.Met688_Ala689delinsIleThr
XM_011532867.1:c.2064_2065delinsAA	XP_011531169.1:p.Met688_Ala689delinsIleThr
XR_939685.1:n.2136_2137delinsAA
XM_005264332.4:c.2064_2065delinsAA	XP_005264389.2:p.Met688_Ala689delinsIleThr
XM_011532867.2:c.2064_2065delinsAA	XP_011531169.1:p.Met688_Ala689delinsIleThr
XR_001738747.2:n.2126_2127delinsAA
XR_939685.2:n.2126_2127delinsAA
NM_000251.3:c.2064_2065delinsAA MANE Select	NP_000242.1:p.Met688_Ala689delinsIleThr