Canonical Allele Identifier: CA2658948080

Gene: MSH2

Linked Data

• gnomAD v4: 2-47475288-TGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475289_47475292del , CM000664.2:g.47475289_47475292del	GRCh38
NC_000002.11:g.47702428_47702431del , CM000664.1:g.47702428_47702431del	GRCh37
NC_000002.10:g.47555932_47555935del	NCBI36
NG_007110.2:g.77166_77169del , LRG_218:g.77166_77169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+19_2005+22del	ENSP00000495641.2:n.2005+19_2005+22del
ENST00000233146.7:c.2005+19_2005+22del MANE Select	ENSP00000233146.2:n.2005+19_2005+22del
ENST00000543555.6:c.1807+19_1807+22del	ENSP00000442697.1:n.1807+19_1807+22del
ENST00000644092.1:c.*305+19_*305+22del	ENSP00000496351.1:n.*305+19_*305+22del
ENST00000645339.1:c.2005+19_2005+22del	ENSP00000496441.1:n.2005+19_2005+22del
ENST00000645506.1:c.2005+19_2005+22del	ENSP00000495455.1:n.2005+19_2005+22del
ENST00000646415.1:c.2005+19_2005+22del	ENSP00000495543.1:n.2005+19_2005+22del
ENST00000233146.6:c.2005+19_2005+22del	ENSP00000233146.2:n.2005+19_2005+22del
ENST00000406134.5:c.2005+19_2005+22del	ENSP00000384199.1:n.2005+19_2005+22del
ENST00000543555.5:c.1807+19_1807+22del	ENSP00000442697.1:n.1807+19_1807+22del
ENST00000610696.4:c.*401+19_*401+22del	ENSP00000483159.1:n.*401+19_*401+22del
ENST00000613514.4:c.*545+19_*545+22del	ENSP00000484137.1:n.*545+19_*545+22del
ENST00000617333.3:c.*771+19_*771+22del	ENSP00000482468.1:n.*771+19_*771+22del
ENST00000617938.4:c.*977+19_*977+22del	ENSP00000481158.1:n.*977+19_*977+22del
ENST00000621359.2:c.2005+19_2005+22del	ENSP00000481416.1:n.2005+19_2005+22del
NM_000251.2:c.2005+19_2005+22del , LRG_218t1:c.2005+19_2005+22del	NP_000242.1:n.2005+19_2005+22del
NM_001258281.1:c.1807+19_1807+22del	NP_001245210.1:n.1807+19_1807+22del
XM_005264332.2:c.2005+19_2005+22del	XP_005264389.2:n.2005+19_2005+22del
XM_011532867.1:c.2005+19_2005+22del	XP_011531169.1:n.2005+19_2005+22del
XR_939685.1:n.2077+19_2077+22del
XM_005264332.4:c.2005+19_2005+22del	XP_005264389.2:n.2005+19_2005+22del
XM_011532867.2:c.2005+19_2005+22del	XP_011531169.1:n.2005+19_2005+22del
XR_001738747.2:n.2067+19_2067+22del
XR_939685.2:n.2067+19_2067+22del
NM_000251.3:c.2005+19_2005+22del MANE Select	NP_000242.1:n.2005+19_2005+22del