Canonical Allele Identifier: CA645372542

Gene: MSH2

Linked Data

• ClinVar Variation Id: 433902
• ClinVar RCV Id: RCV000502826 ; RCV001857066 ; RCV003449407
• dbSNP Id: rs1553370310
• MyVariant Identifiers: chr2:g.47707848_47707849del (hg19) ; chr2:g.47480709_47480710del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480709_47480710del , CM000664.2:g.47480709_47480710del	GRCh38
NC_000002.11:g.47707848_47707849del , CM000664.1:g.47707848_47707849del	GRCh37
NC_000002.10:g.47561352_47561353del	NCBI36
NG_007110.2:g.82586_82587del , LRG_218:g.82586_82587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2472_2473del	ENSP00000495641.2:p.Ser825PhefsTer10
ENST00000233146.7:c.2472_2473del MANE Select	ENSP00000233146.2:p.Ser825PhefsTer10
ENST00000543555.6:c.2274_2275del	ENSP00000442697.1:p.Ser759PhefsTer10
ENST00000644092.1:c.*772_*773del	ENSP00000496351.1:n.*772_*773del
ENST00000644900.1:c.325_326del
ENST00000645339.1:c.2472_2473del	ENSP00000496441.1:p.Ser825PhefsTer10
ENST00000645506.1:c.2472_2473del	ENSP00000495455.1:p.Ser825PhefsTer10
ENST00000646415.1:c.2472_2473del	ENSP00000495543.1:p.Ser825PhefsTer10
ENST00000233146.6:c.2472_2473del	ENSP00000233146.2:p.Ser825PhefsTer10
ENST00000406134.5:c.2472_2473del	ENSP00000384199.1:p.Ser825PhefsTer10
ENST00000543555.5:c.2274_2275del	ENSP00000442697.1:p.Ser759PhefsTer10
ENST00000610696.4:c.*868_*869del	ENSP00000483159.1:n.*868_*869del
ENST00000613514.4:c.*1012_*1013del	ENSP00000484137.1:n.*1012_*1013del
ENST00000617333.3:c.*1238_*1239del	ENSP00000482468.1:n.*1238_*1239del
ENST00000617938.4:c.*1444_*1445del	ENSP00000481158.1:n.*1444_*1445del
ENST00000621359.2:c.*38_*39del	ENSP00000481416.1:n.*38_*39del
NM_000251.2:c.2472_2473del , LRG_218t1:c.2472_2473del	NP_000242.1:p.Ser825PhefsTer10
NM_001258281.1:c.2274_2275del	NP_001245210.1:p.Ser759PhefsTer10
XM_005264332.2:c.2472_2473del	XP_005264389.2:p.Ser825PhefsTer10
XM_011532867.1:c.2472_2473del	XP_011531169.1:p.Ser825PhefsTer10
XR_939685.1:n.2544_2545del
XM_005264332.4:c.2472_2473del	XP_005264389.2:p.Ser825PhefsTer10
XM_011532867.2:c.2472_2473del	XP_011531169.1:p.Ser825PhefsTer10
XR_001738747.2:n.2534_2535del
XR_939685.2:n.2534_2535del
NM_000251.3:c.2472_2473del MANE Select	NP_000242.1:p.Ser825PhefsTer10