Canonical Allele Identifier: CA1030270350

Gene: MSH2

Linked Data

• gnomAD v3: 2-47475337-TGGAGTAGAAA-T
• gnomAD v4: 2-47475337-TGGAGTAGAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475338_47475347del , CM000664.2:g.47475338_47475347del	GRCh38
NC_000002.11:g.47702477_47702486del , CM000664.1:g.47702477_47702486del	GRCh37
NC_000002.10:g.47555981_47555990del	NCBI36
NG_007110.2:g.77215_77224del , LRG_218:g.77215_77224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+68_2005+77del	ENSP00000495641.2:n.2005+68_2005+77del
ENST00000233146.7:c.2005+68_2005+77del MANE Select	ENSP00000233146.2:n.2005+68_2005+77del
ENST00000543555.6:c.1807+68_1807+77del	ENSP00000442697.1:n.1807+68_1807+77del
ENST00000644092.1:c.*305+68_*305+77del	ENSP00000496351.1:n.*305+68_*305+77del
ENST00000645339.1:c.2005+68_2005+77del	ENSP00000496441.1:n.2005+68_2005+77del
ENST00000645506.1:c.2005+68_2005+77del	ENSP00000495455.1:n.2005+68_2005+77del
ENST00000646415.1:c.2005+68_2005+77del	ENSP00000495543.1:n.2005+68_2005+77del
ENST00000233146.6:c.2005+68_2005+77del	ENSP00000233146.2:n.2005+68_2005+77del
ENST00000406134.5:c.2005+68_2005+77del	ENSP00000384199.1:n.2005+68_2005+77del
ENST00000543555.5:c.1807+68_1807+77del	ENSP00000442697.1:n.1807+68_1807+77del
ENST00000610696.4:c.*401+68_*401+77del	ENSP00000483159.1:n.*401+68_*401+77del
ENST00000613514.4:c.*545+68_*545+77del	ENSP00000484137.1:n.*545+68_*545+77del
ENST00000617333.3:c.*771+68_*771+77del	ENSP00000482468.1:n.*771+68_*771+77del
ENST00000617938.4:c.*977+68_*977+77del	ENSP00000481158.1:n.*977+68_*977+77del
ENST00000621359.2:c.2005+68_2005+77del	ENSP00000481416.1:n.2005+68_2005+77del
NM_000251.2:c.2005+68_2005+77del , LRG_218t1:c.2005+68_2005+77del	NP_000242.1:n.2005+68_2005+77del
NM_001258281.1:c.1807+68_1807+77del	NP_001245210.1:n.1807+68_1807+77del
XM_005264332.2:c.2005+68_2005+77del	XP_005264389.2:n.2005+68_2005+77del
XM_011532867.1:c.2005+68_2005+77del	XP_011531169.1:n.2005+68_2005+77del
XR_939685.1:n.2077+68_2077+77del
XM_005264332.4:c.2005+68_2005+77del	XP_005264389.2:n.2005+68_2005+77del
XM_011532867.2:c.2005+68_2005+77del	XP_011531169.1:n.2005+68_2005+77del
XR_001738747.2:n.2067+68_2067+77del
XR_939685.2:n.2067+68_2067+77del
NM_000251.3:c.2005+68_2005+77del MANE Select	NP_000242.1:n.2005+68_2005+77del