Canonical Allele Identifier: CA2580067334

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2133295
• ClinVar RCV Id: RCV003040864

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480879_47480880insTA , CM000664.2:g.47480879_47480880insTA	GRCh38
NC_000002.11:g.47708018_47708019insTA , CM000664.1:g.47708018_47708019insTA	GRCh37
NC_000002.10:g.47561522_47561523insTA	NCBI36
NG_007110.2:g.82756_82757insTA , LRG_218:g.82756_82757insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+8_2634+9insTA	ENSP00000495641.2:n.2634+8_2634+9insTA
ENST00000233146.7:c.2634+8_2634+9insTA MANE Select	ENSP00000233146.2:n.2634+8_2634+9insTA
ENST00000543555.6:c.2436+8_2436+9insTA	ENSP00000442697.1:n.2436+8_2436+9insTA
ENST00000644092.1:c.*934+8_*934+9insTA	ENSP00000496351.1:n.*934+8_*934+9insTA
ENST00000644900.1:c.487+8_487+9insTA
ENST00000645339.1:c.2634+8_2634+9insTA	ENSP00000496441.1:n.2634+8_2634+9insTA
ENST00000645506.1:c.2634+8_2634+9insTA	ENSP00000495455.1:n.2634+8_2634+9insTA
ENST00000646415.1:c.2634+8_2634+9insTA	ENSP00000495543.1:n.2634+8_2634+9insTA
ENST00000233146.6:c.2634+8_2634+9insTA	ENSP00000233146.2:n.2634+8_2634+9insTA
ENST00000406134.5:c.2634+8_2634+9insTA	ENSP00000384199.1:n.2634+8_2634+9insTA
ENST00000461394.5:n.75+8_75+9insTA
ENST00000543555.5:c.2436+8_2436+9insTA	ENSP00000442697.1:n.2436+8_2436+9insTA
ENST00000610696.4:c.*1030+8_*1030+9insTA	ENSP00000483159.1:n.*1030+8_*1030+9insTA
ENST00000613514.4:c.*1174+8_*1174+9insTA	ENSP00000484137.1:n.*1174+8_*1174+9insTA
ENST00000617333.3:c.*1400+8_*1400+9insTA	ENSP00000482468.1:n.*1400+8_*1400+9insTA
ENST00000617938.4:c.*1606+8_*1606+9insTA	ENSP00000481158.1:n.*1606+8_*1606+9insTA
ENST00000621359.2:c.*200+8_*200+9insTA	ENSP00000481416.1:n.*200+8_*200+9insTA
NM_000251.2:c.2634+8_2634+9insTA , LRG_218t1:c.2634+8_2634+9insTA	NP_000242.1:n.2634+8_2634+9insTA
NM_001258281.1:c.2436+8_2436+9insTA	NP_001245210.1:n.2436+8_2436+9insTA
XM_005264332.2:c.2634+8_2634+9insTA	XP_005264389.2:n.2634+8_2634+9insTA
XM_011532867.1:c.2634+8_2634+9insTA	XP_011531169.1:n.2634+8_2634+9insTA
XR_939685.1:n.2706+8_2706+9insTA
XM_005264332.4:c.2634+8_2634+9insTA	XP_005264389.2:n.2634+8_2634+9insTA
XM_011532867.2:c.2634+8_2634+9insTA	XP_011531169.1:n.2634+8_2634+9insTA
XR_001738747.2:n.2696+8_2696+9insTA
XR_939685.2:n.2696+8_2696+9insTA
NM_000251.3:c.2634+8_2634+9insTA MANE Select	NP_000242.1:n.2634+8_2634+9insTA