Canonical Allele Identifier: CA2580066960

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780445
• ClinVar RCV Id: RCV002410038

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475069_47475072dup , CM000664.2:g.47475069_47475072dup	GRCh38
NC_000002.11:g.47702208_47702211dup , CM000664.1:g.47702208_47702211dup	GRCh37
NC_000002.10:g.47555712_47555715dup	NCBI36
NG_007110.2:g.76946_76949dup , LRG_218:g.76946_76949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1804_1807dup	ENSP00000495641.2:p.Asp603AlafsTer?
ENST00000233146.7:c.1804_1807dup MANE Select	ENSP00000233146.2:p.Asp603AlafsTer?
ENST00000543555.6:c.1606_1609dup	ENSP00000442697.1:p.Asp537AlafsTer?
ENST00000644092.1:c.*104_*107dup	ENSP00000496351.1:n.*104_*107dup
ENST00000645339.1:c.1804_1807dup	ENSP00000496441.1:p.Asp603AlafsTer?
ENST00000645506.1:c.1804_1807dup	ENSP00000495455.1:p.Asp603AlafsTer?
ENST00000646415.1:c.1804_1807dup	ENSP00000495543.1:p.Asp603AlafsTer?
ENST00000233146.6:c.1804_1807dup	ENSP00000233146.2:p.Asp603AlafsTer?
ENST00000406134.5:c.1804_1807dup	ENSP00000384199.1:p.Asp603AlafsTer?
ENST00000543555.5:c.1606_1609dup	ENSP00000442697.1:p.Asp537AlafsTer?
ENST00000610696.4:c.*200_*203dup	ENSP00000483159.1:n.*200_*203dup
ENST00000613514.4:c.*344_*347dup	ENSP00000484137.1:n.*344_*347dup
ENST00000617333.3:c.*570_*573dup	ENSP00000482468.1:n.*570_*573dup
ENST00000617938.4:c.*776_*779dup	ENSP00000481158.1:n.*776_*779dup
ENST00000621359.2:c.1804_1807dup	ENSP00000481416.1:p.Asp603AlafsTer?
NM_000251.2:c.1804_1807dup , LRG_218t1:c.1804_1807dup	NP_000242.1:p.Asp603AlafsTer?
NM_001258281.1:c.1606_1609dup	NP_001245210.1:p.Asp537AlafsTer?
XM_005264332.2:c.1804_1807dup	XP_005264389.2:p.Asp603AlafsTer?
XM_011532867.1:c.1804_1807dup	XP_011531169.1:p.Asp603AlafsTer?
XR_939685.1:n.1876_1879dup
XM_005264332.4:c.1804_1807dup	XP_005264389.2:p.Asp603AlafsTer?
XM_011532867.2:c.1804_1807dup	XP_011531169.1:p.Asp603AlafsTer?
XR_001738747.2:n.1866_1869dup
XR_939685.2:n.1866_1869dup
NM_000251.3:c.1804_1807dup MANE Select	NP_000242.1:p.Asp603AlafsTer?