Canonical Allele Identifier: CA2658949149

Gene: MSH2

Linked Data

• gnomAD v4: 2-47480618-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480621_47480623del , CM000664.2:g.47480621_47480623del	GRCh38
NC_000002.11:g.47707760_47707762del , CM000664.1:g.47707760_47707762del	GRCh37
NC_000002.10:g.47561264_47561266del	NCBI36
NG_007110.2:g.82498_82500del , LRG_218:g.82498_82500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2459-75_2459-73del	ENSP00000495641.2:n.2459-75_2459-73del
ENST00000233146.7:c.2459-75_2459-73del MANE Select	ENSP00000233146.2:n.2459-75_2459-73del
ENST00000543555.6:c.2261-75_2261-73del	ENSP00000442697.1:n.2261-75_2261-73del
ENST00000644092.1:c.*759-75_*759-73del	ENSP00000496351.1:n.*759-75_*759-73del
ENST00000644900.1:c.312-75_312-73del
ENST00000645339.1:c.2459-75_2459-73del	ENSP00000496441.1:n.2459-75_2459-73del
ENST00000645506.1:c.2459-75_2459-73del	ENSP00000495455.1:n.2459-75_2459-73del
ENST00000646415.1:c.2459-75_2459-73del	ENSP00000495543.1:n.2459-75_2459-73del
ENST00000233146.6:c.2459-75_2459-73del	ENSP00000233146.2:n.2459-75_2459-73del
ENST00000406134.5:c.2459-75_2459-73del	ENSP00000384199.1:n.2459-75_2459-73del
ENST00000543555.5:c.2261-75_2261-73del	ENSP00000442697.1:n.2261-75_2261-73del
ENST00000610696.4:c.*855-75_*855-73del	ENSP00000483159.1:n.*855-75_*855-73del
ENST00000613514.4:c.*999-75_*999-73del	ENSP00000484137.1:n.*999-75_*999-73del
ENST00000617333.3:c.*1225-75_*1225-73del	ENSP00000482468.1:n.*1225-75_*1225-73del
ENST00000617938.4:c.*1431-75_*1431-73del	ENSP00000481158.1:n.*1431-75_*1431-73del
ENST00000621359.2:c.*25-75_*25-73del	ENSP00000481416.1:n.*25-75_*25-73del
NM_000251.2:c.2459-75_2459-73del , LRG_218t1:c.2459-75_2459-73del	NP_000242.1:n.2459-75_2459-73del
NM_001258281.1:c.2261-75_2261-73del	NP_001245210.1:n.2261-75_2261-73del
XM_005264332.2:c.2459-75_2459-73del	XP_005264389.2:n.2459-75_2459-73del
XM_011532867.1:c.2459-75_2459-73del	XP_011531169.1:n.2459-75_2459-73del
XR_939685.1:n.2531-75_2531-73del
XM_005264332.4:c.2459-75_2459-73del	XP_005264389.2:n.2459-75_2459-73del
XM_011532867.2:c.2459-75_2459-73del	XP_011531169.1:n.2459-75_2459-73del
XR_001738747.2:n.2521-75_2521-73del
XR_939685.2:n.2521-75_2521-73del
NM_000251.3:c.2459-75_2459-73del MANE Select	NP_000242.1:n.2459-75_2459-73del