Canonical Allele Identifier: CA2658948102

Gene: MSH2

Linked Data

• gnomAD v4: 2-47475307-GTTTTGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475312_47475319del , CM000664.2:g.47475312_47475319del	GRCh38
NC_000002.11:g.47702451_47702458del , CM000664.1:g.47702451_47702458del	GRCh37
NC_000002.10:g.47555955_47555962del	NCBI36
NG_007110.2:g.77189_77196del , LRG_218:g.77189_77196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+42_2005+49del	ENSP00000495641.2:n.2005+42_2005+49del
ENST00000233146.7:c.2005+42_2005+49del MANE Select	ENSP00000233146.2:n.2005+42_2005+49del
ENST00000543555.6:c.1807+42_1807+49del	ENSP00000442697.1:n.1807+42_1807+49del
ENST00000644092.1:c.*305+42_*305+49del	ENSP00000496351.1:n.*305+42_*305+49del
ENST00000645339.1:c.2005+42_2005+49del	ENSP00000496441.1:n.2005+42_2005+49del
ENST00000645506.1:c.2005+42_2005+49del	ENSP00000495455.1:n.2005+42_2005+49del
ENST00000646415.1:c.2005+42_2005+49del	ENSP00000495543.1:n.2005+42_2005+49del
ENST00000233146.6:c.2005+42_2005+49del	ENSP00000233146.2:n.2005+42_2005+49del
ENST00000406134.5:c.2005+42_2005+49del	ENSP00000384199.1:n.2005+42_2005+49del
ENST00000543555.5:c.1807+42_1807+49del	ENSP00000442697.1:n.1807+42_1807+49del
ENST00000610696.4:c.*401+42_*401+49del	ENSP00000483159.1:n.*401+42_*401+49del
ENST00000613514.4:c.*545+42_*545+49del	ENSP00000484137.1:n.*545+42_*545+49del
ENST00000617333.3:c.*771+42_*771+49del	ENSP00000482468.1:n.*771+42_*771+49del
ENST00000617938.4:c.*977+42_*977+49del	ENSP00000481158.1:n.*977+42_*977+49del
ENST00000621359.2:c.2005+42_2005+49del	ENSP00000481416.1:n.2005+42_2005+49del
NM_000251.2:c.2005+42_2005+49del , LRG_218t1:c.2005+42_2005+49del	NP_000242.1:n.2005+42_2005+49del
NM_001258281.1:c.1807+42_1807+49del	NP_001245210.1:n.1807+42_1807+49del
XM_005264332.2:c.2005+42_2005+49del	XP_005264389.2:n.2005+42_2005+49del
XM_011532867.1:c.2005+42_2005+49del	XP_011531169.1:n.2005+42_2005+49del
XR_939685.1:n.2077+42_2077+49del
XM_005264332.4:c.2005+42_2005+49del	XP_005264389.2:n.2005+42_2005+49del
XM_011532867.2:c.2005+42_2005+49del	XP_011531169.1:n.2005+42_2005+49del
XR_001738747.2:n.2067+42_2067+49del
XR_939685.2:n.2067+42_2067+49del
NM_000251.3:c.2005+42_2005+49del MANE Select	NP_000242.1:n.2005+42_2005+49del