Canonical Allele Identifier: CA2658946488

Gene: MSH2

Linked Data

• gnomAD v4: 2-47414420-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414447_47414448insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.47414447_47414448insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.47641586_47641587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.47641586_47641587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.47495090_47495091insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_007110.2:g.16324_16325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_218:g.16324_16325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000495641.2:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000233146.7:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000233146.2:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000543555.6:c.744+29_744+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000442697.1:n.744+29_744+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000644092.1:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000496351.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000645339.1:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000496441.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000645506.1:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000495455.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000646415.1:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000495543.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000233146.6:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000233146.2:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000406134.5:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000384199.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000543555.5:c.744+29_744+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000442697.1:n.744+29_744+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000610696.4:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000483159.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000613514.4:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000484137.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000617333.3:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000482468.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000617938.4:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000481158.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000621359.2:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000481416.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_000251.2:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , LRG_218t1:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_000242.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001258281.1:c.744+29_744+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001245210.1:n.744+29_744+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005264332.2:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005264389.2:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532867.1:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011531169.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XR_939685.1:n.1014+29_1014+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
XM_005264332.4:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005264389.2:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011532867.2:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011531169.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XR_001738747.2:n.1004+29_1004+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
XR_939685.2:n.1004+29_1004+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_000251.3:c.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_000242.1:n.942+29_942+30insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...