Canonical Allele Identifier: CA037012

Gene: MSH2

Linked Data

• dbSNP Id: rs767933707
• ExAC: 2:47708053 A / ACCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
• gnomAD v2: 2-47708053-A-ACCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
• MyVariant Identifiers: chr2:g.47708053_47708054insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT (hg19) ; chr2:g.47480914_47480915insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480914_47480915insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT , CM000664.2:g.47480914_47480915insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	GRCh38
NC_000002.11:g.47708053_47708054insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT , CM000664.1:g.47708053_47708054insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	GRCh37
NC_000002.10:g.47561557_47561558insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	NCBI36
NG_007110.2:g.82791_82792insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT , LRG_218:g.82791_82792insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000495641.2:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000233146.7:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT MANE Select	ENSP00000233146.2:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000543555.6:c.2436+43_2436+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000442697.1:n.2436+43_2436+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000644092.1:c.*934+43_*934+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000496351.1:n.*934+43_*934+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000644900.1:c.487+43_487+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
ENST00000645339.1:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000496441.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000645506.1:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000495455.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000646415.1:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000495543.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000233146.6:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000233146.2:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000406134.5:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000384199.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000461394.5:n.75+43_75+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
ENST00000543555.5:c.2436+43_2436+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000442697.1:n.2436+43_2436+44insCCAAAGCTGGTTTCAAGCCAACC...
ENST00000610696.4:c.*1030+43_*1030+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000483159.1:n.*1030+43_*1030+44insCCAAAGCTGGTTTCAAGCCAA...
ENST00000613514.4:c.*1174+43_*1174+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000484137.1:n.*1174+43_*1174+44insCCAAAGCTGGTTTCAAGCCAA...
ENST00000617333.3:c.*1400+43_*1400+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000482468.1:n.*1400+43_*1400+44insCCAAAGCTGGTTTCAAGCCAA...
ENST00000617938.4:c.*1606+43_*1606+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000481158.1:n.*1606+43_*1606+44insCCAAAGCTGGTTTCAAGCCAA...
ENST00000621359.2:c.*200+43_*200+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	ENSP00000481416.1:n.*200+43_*200+44insCCAAAGCTGGTTTCAAGCCAACC...
NM_000251.2:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT , LRG_218t1:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	NP_000242.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGG...
NM_001258281.1:c.2436+43_2436+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	NP_001245210.1:n.2436+43_2436+44insCCAAAGCTGGTTTCAAGCCAACCCCA...
XM_005264332.2:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	XP_005264389.2:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCA...
XM_011532867.1:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	XP_011531169.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCA...
XR_939685.1:n.2706+43_2706+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
XM_005264332.4:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	XP_005264389.2:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCA...
XM_011532867.2:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT	XP_011531169.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCA...
XR_001738747.2:n.2696+43_2696+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
XR_939685.2:n.2696+43_2696+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT
NM_000251.3:c.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGGCCTCCATGACTT MANE Select	NP_000242.1:n.2634+43_2634+44insCCAAAGCTGGTTTCAAGCCAACCCCATGG...