Canonical Allele Identifier: CA1030269390

Gene: MSH2

Linked Data

• gnomAD v3: 2-47408397-TAAGGAG-T
• gnomAD v4: 2-47408397-TAAGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47408398_47408403del , CM000664.2:g.47408398_47408403del	GRCh38
NC_000002.11:g.47635537_47635542del , CM000664.1:g.47635537_47635542del	GRCh37
NC_000002.10:g.47489041_47489046del	NCBI36
NG_007110.2:g.10275_10280del , LRG_218:g.10275_10280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.212-3_214del
ENST00000233146.7:c.212-3_214del
ENST00000543555.6:c.14-3_16del
ENST00000644092.1:c.212-3_214del
ENST00000645339.1:c.212-3_214del
ENST00000645506.1:c.212-3_214del
ENST00000646415.1:c.212-3_214del
ENST00000233146.6:c.212-3_214del
ENST00000406134.5:c.212-3_214del
ENST00000454849.5:c.14-3_16del
ENST00000543555.5:c.14-3_16del
ENST00000610696.4:c.212-3_214del
ENST00000613514.4:c.212-3_214del
ENST00000617333.3:c.212-3_214del
ENST00000617938.4:c.212-3_214del
ENST00000621359.2:c.212-3_214del
NM_000251.2:c.212-3_214del , LRG_218t1:c.212-3_214del
NM_001258281.1:c.14-3_16del
XM_005264332.2:c.212-3_214del
XM_011532867.1:c.212-3_214del
XR_939685.1:n.284-3_286del
XM_005264332.4:c.212-3_214del
XM_011532867.2:c.212-3_214del
XR_001738747.2:n.274-3_276del
XR_939685.2:n.274-3_276del
NM_000251.3:c.212-3_214del