Canonical Allele Identifier: CA645372538

Gene: MSH2

Linked Data

• ClinVar Variation Id: 433900
• ClinVar RCV Id: RCV000504395 ; RCV000573846
• dbSNP Id: rs1553369686
• MyVariant Identifiers: chr2:g.47705466_47705467insAGA (hg19) ; chr2:g.47478327_47478328insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478327_47478328insAGA , CM000664.2:g.47478327_47478328insAGA	GRCh38
NC_000002.11:g.47705466_47705467insAGA , CM000664.1:g.47705466_47705467insAGA	GRCh37
NC_000002.10:g.47558970_47558971insAGA	NCBI36
NG_007110.2:g.80204_80205insAGA , LRG_218:g.80204_80205insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2266_2267insAGA	ENSP00000495641.2:p.Ser755_Thr756insLys
ENST00000233146.7:c.2266_2267insAGA MANE Select	ENSP00000233146.2:p.Ser755_Thr756insLys
ENST00000543555.6:c.2068_2069insAGA	ENSP00000442697.1:p.Ser689_Thr690insLys
ENST00000644092.1:c.*566_*567insAGA	ENSP00000496351.1:n.*566_*567insAGA
ENST00000644900.1:c.119_120insAGA
ENST00000645339.1:c.2266_2267insAGA	ENSP00000496441.1:p.Ser755_Thr756insLys
ENST00000645506.1:c.2266_2267insAGA	ENSP00000495455.1:p.Ser755_Thr756insLys
ENST00000646415.1:c.2266_2267insAGA	ENSP00000495543.1:p.Ser755_Thr756insLys
ENST00000233146.6:c.2266_2267insAGA	ENSP00000233146.2:p.Ser755_Thr756insLys
ENST00000406134.5:c.2266_2267insAGA	ENSP00000384199.1:p.Ser755_Thr756insLys
ENST00000543555.5:c.2068_2069insAGA	ENSP00000442697.1:p.Ser689_Thr690insLys
ENST00000610696.4:c.*662_*663insAGA	ENSP00000483159.1:n.*662_*663insAGA
ENST00000613514.4:c.*806_*807insAGA	ENSP00000484137.1:n.*806_*807insAGA
ENST00000617333.3:c.*1032_*1033insAGA	ENSP00000482468.1:n.*1032_*1033insAGA
ENST00000617938.4:c.*1238_*1239insAGA	ENSP00000481158.1:n.*1238_*1239insAGA
ENST00000621359.2:c.2266_2267insAGA	ENSP00000481416.1:p.Ser755_Thr756insLys
NM_000251.2:c.2266_2267insAGA , LRG_218t1:c.2266_2267insAGA	NP_000242.1:p.Ser755_Thr756insLys
NM_001258281.1:c.2068_2069insAGA	NP_001245210.1:p.Ser689_Thr690insLys
XM_005264332.2:c.2266_2267insAGA	XP_005264389.2:p.Ser755_Thr756insLys
XM_011532867.1:c.2266_2267insAGA	XP_011531169.1:p.Ser755_Thr756insLys
XR_939685.1:n.2338_2339insAGA
XM_005264332.4:c.2266_2267insAGA	XP_005264389.2:p.Ser755_Thr756insLys
XM_011532867.2:c.2266_2267insAGA	XP_011531169.1:p.Ser755_Thr756insLys
XR_001738747.2:n.2328_2329insAGA
XR_939685.2:n.2328_2329insAGA
NM_000251.3:c.2266_2267insAGA MANE Select	NP_000242.1:p.Ser755_Thr756insLys