Canonical Allele Identifier: CA769440442

Gene: MSH2

Linked Data

• dbSNP Id: rs1444923642
• gnomAD v3: 2-47483140-GTAAC-G
• gnomAD v4: 2-47483140-GTAAC-G
• MyVariant Identifiers: chr2:g.47710280_47710283del (hg19) ; chr2:g.47483141_47483144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47483142_47483145del , CM000664.2:g.47483142_47483145del	GRCh38
NC_000002.11:g.47710281_47710284del , CM000664.1:g.47710281_47710284del	GRCh37
NC_000002.10:g.47563785_47563788del	NCBI36
NG_007110.2:g.85019_85022del , LRG_218:g.85019_85022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2271_2634+2274del	ENSP00000495641.2:n.2634+2271_2634+2274del
ENST00000233146.7:c.*193_*196del MANE Select	ENSP00000233146.2:n.*193_*196del
ENST00000543555.6:c.*193_*196del	ENSP00000442697.1:n.*193_*196del
ENST00000644092.1:c.*934+2271_*934+2274del	ENSP00000496351.1:n.*934+2271_*934+2274del
ENST00000644900.1:c.487+2271_487+2274del
ENST00000645339.1:c.2634+2271_2634+2274del	ENSP00000496441.1:n.2634+2271_2634+2274del
ENST00000645506.1:c.2634+2271_2634+2274del	ENSP00000495455.1:n.2634+2271_2634+2274del
ENST00000646415.1:c.2634+2271_2634+2274del	ENSP00000495543.1:n.2634+2271_2634+2274del
ENST00000233146.6:c.*193_*196del	ENSP00000233146.2:n.*193_*196del
ENST00000406134.5:c.2634+2271_2634+2274del	ENSP00000384199.1:n.2634+2271_2634+2274del
ENST00000461394.5:n.75+2271_75+2274del
ENST00000543555.5:c.*193_*196del	ENSP00000442697.1:n.*193_*196del
NM_000251.2:c.*193_*196del , LRG_218t1:c.*193_*196del	NP_000242.1:n.*193_*196del
NM_001258281.1:c.*193_*196del	NP_001245210.1:n.*193_*196del
XM_005264332.2:c.2634+2271_2634+2274del	XP_005264389.2:n.2634+2271_2634+2274del
XM_011532867.1:c.2634+2271_2634+2274del	XP_011531169.1:n.2634+2271_2634+2274del
XR_939685.1:n.2706+2271_2706+2274del
XM_005264332.4:c.2634+2271_2634+2274del	XP_005264389.2:n.2634+2271_2634+2274del
XM_011532867.2:c.2634+2271_2634+2274del	XP_011531169.1:n.2634+2271_2634+2274del
XR_001738747.2:n.2696+2271_2696+2274del
XR_939685.2:n.2696+2271_2696+2274del
NM_000251.3:c.*193_*196del MANE Select	NP_000242.1:n.*193_*196del