Canonical Allele Identifier: CA1139655600

Gene: MSH2

Linked Data

• ClinVar Variation Id: 942026
• ClinVar RCV Id: RCV001211930 ; RCV003449668
• dbSNP Id: rs1667398945

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478450_47478451del , CM000664.2:g.47478450_47478451del	GRCh38
NC_000002.11:g.47705589_47705590del , CM000664.1:g.47705589_47705590del	GRCh37
NC_000002.10:g.47559093_47559094del	NCBI36
NG_007110.2:g.80327_80328del , LRG_218:g.80327_80328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2389_2390del	ENSP00000495641.2:p.Val797Ter
ENST00000233146.7:c.2389_2390del MANE Select	ENSP00000233146.2:p.Val797Ter
ENST00000543555.6:c.2191_2192del	ENSP00000442697.1:p.Val731Ter
ENST00000644092.1:c.*689_*690del	ENSP00000496351.1:n.*689_*690del
ENST00000644900.1:c.242_243del
ENST00000645339.1:c.2389_2390del	ENSP00000496441.1:p.Val797Ter
ENST00000645506.1:c.2389_2390del	ENSP00000495455.1:p.Val797Ter
ENST00000646415.1:c.2389_2390del	ENSP00000495543.1:p.Val797Ter
ENST00000233146.6:c.2389_2390del	ENSP00000233146.2:p.Val797Ter
ENST00000406134.5:c.2389_2390del	ENSP00000384199.1:p.Val797Ter
ENST00000543555.5:c.2191_2192del	ENSP00000442697.1:p.Val731Ter
ENST00000610696.4:c.*785_*786del	ENSP00000483159.1:n.*785_*786del
ENST00000613514.4:c.*929_*930del	ENSP00000484137.1:n.*929_*930del
ENST00000617333.3:c.*1155_*1156del	ENSP00000482468.1:n.*1155_*1156del
ENST00000617938.4:c.*1361_*1362del	ENSP00000481158.1:n.*1361_*1362del
ENST00000621359.2:c.2388_2389del	ENSP00000481416.1:p.Leu797AsnfsTer?
NM_000251.2:c.2389_2390del , LRG_218t1:c.2389_2390del	NP_000242.1:p.Val797Ter
NM_001258281.1:c.2191_2192del	NP_001245210.1:p.Val731Ter
XM_005264332.2:c.2389_2390del	XP_005264389.2:p.Val797Ter
XM_011532867.1:c.2389_2390del	XP_011531169.1:p.Val797Ter
XR_939685.1:n.2461_2462del
XM_005264332.4:c.2389_2390del	XP_005264389.2:p.Val797Ter
XM_011532867.2:c.2389_2390del	XP_011531169.1:p.Val797Ter
XR_001738747.2:n.2451_2452del
XR_939685.2:n.2451_2452del
NM_000251.3:c.2389_2390del MANE Select	NP_000242.1:p.Val797Ter