Canonical Allele Identifier: CA1030257981

Gene: MSH2

Linked Data

• dbSNP Id: rs1672648568
• gnomAD v3: 2-47409977-AAAG-A
• gnomAD v4: 2-47409977-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47409979_47409981del , CM000664.2:g.47409979_47409981del	GRCh38
NC_000002.11:g.47637118_47637120del , CM000664.1:g.47637118_47637120del	GRCh37
NC_000002.10:g.47490622_47490624del	NCBI36
NG_007110.2:g.11856_11858del , LRG_218:g.11856_11858del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.367-115_367-113del	ENSP00000495641.2:n.367-115_367-113del
ENST00000233146.7:c.367-115_367-113del MANE Select	ENSP00000233146.2:n.367-115_367-113del
ENST00000543555.6:c.169-115_169-113del	ENSP00000442697.1:n.169-115_169-113del
ENST00000644092.1:c.367-115_367-113del	ENSP00000496351.1:n.367-115_367-113del
ENST00000645339.1:c.367-115_367-113del	ENSP00000496441.1:n.367-115_367-113del
ENST00000645506.1:c.367-115_367-113del	ENSP00000495455.1:n.367-115_367-113del
ENST00000646415.1:c.367-115_367-113del	ENSP00000495543.1:n.367-115_367-113del
ENST00000233146.6:c.367-115_367-113del	ENSP00000233146.2:n.367-115_367-113del
ENST00000406134.5:c.367-115_367-113del	ENSP00000384199.1:n.367-115_367-113del
ENST00000454849.5:c.169-115_169-113del	ENSP00000411482.1:n.169-115_169-113del
ENST00000543555.5:c.169-115_169-113del	ENSP00000442697.1:n.169-115_169-113del
ENST00000610696.4:c.367-115_367-113del	ENSP00000483159.1:n.367-115_367-113del
ENST00000613514.4:c.367-115_367-113del	ENSP00000484137.1:n.367-115_367-113del
ENST00000617333.3:c.367-115_367-113del	ENSP00000482468.1:n.367-115_367-113del
ENST00000617938.4:c.367-115_367-113del	ENSP00000481158.1:n.367-115_367-113del
ENST00000621359.2:c.367-115_367-113del	ENSP00000481416.1:n.367-115_367-113del
NM_000251.2:c.367-115_367-113del , LRG_218t1:c.367-115_367-113del	NP_000242.1:n.367-115_367-113del
NM_001258281.1:c.169-115_169-113del	NP_001245210.1:n.169-115_169-113del
XM_005264332.2:c.367-115_367-113del	XP_005264389.2:n.367-115_367-113del
XM_011532867.1:c.367-115_367-113del	XP_011531169.1:n.367-115_367-113del
XR_939685.1:n.439-115_439-113del
XM_005264332.4:c.367-115_367-113del	XP_005264389.2:n.367-115_367-113del
XM_011532867.2:c.367-115_367-113del	XP_011531169.1:n.367-115_367-113del
XR_001738747.2:n.429-115_429-113del
XR_939685.2:n.429-115_429-113del
NM_000251.3:c.367-115_367-113del MANE Select	NP_000242.1:n.367-115_367-113del