Canonical Allele Identifier: CA1030270108

Gene: MSH2

Linked Data

• dbSNP Id: rs745671915
• gnomAD v3: 2-47475307-G-GTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 2-47475307-G-GTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTT , CM000664.2:g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.47702450_47702451insTTTTTTTTTTTTTTTTTTTTTTT , CM000664.1:g.47702450_47702451insTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.47555954_47555955insTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007110.2:g.77188_77189insTTTTTTTTTTTTTTTTTTTTTTT , LRG_218:g.77188_77189insTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000495641.2:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000233146.7:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000233146.2:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000543555.6:c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000442697.1:n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000644092.1:c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000496351.1:n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000645339.1:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000496441.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000645506.1:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000495455.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000646415.1:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000495543.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000233146.6:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000233146.2:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000406134.5:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000384199.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000543555.5:c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000442697.1:n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000610696.4:c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000483159.1:n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000613514.4:c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000484137.1:n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000617333.3:c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000482468.1:n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000617938.4:c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000481158.1:n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000621359.2:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000481416.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT...
NM_000251.2:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT , LRG_218t1:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	NP_000242.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT
NM_001258281.1:c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT	NP_001245210.1:n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT
XM_005264332.2:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	XP_005264389.2:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT
XM_011532867.1:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	XP_011531169.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT
XR_939685.1:n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTT
XM_005264332.4:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	XP_005264389.2:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT
XM_011532867.2:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT	XP_011531169.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT
XR_001738747.2:n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTT
XR_939685.2:n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTT
NM_000251.3:c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000242.1:n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT