Canonical Allele Identifier: CA2695200498

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673415
• ClinVar RCV Id: RCV003450138

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478511_47478512insC , CM000664.2:g.47478511_47478512insC	GRCh38
NC_000002.11:g.47705650_47705651insC , CM000664.1:g.47705650_47705651insC	GRCh37
NC_000002.10:g.47559154_47559155insC	NCBI36
NG_007110.2:g.80388_80389insC , LRG_218:g.80388_80389insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2450_2451insC	ENSP00000495641.2:p.Lys818GlufsTer6
ENST00000233146.7:c.2450_2451insC MANE Select	ENSP00000233146.2:p.Lys818GlufsTer6
ENST00000543555.6:c.2252_2253insC	ENSP00000442697.1:p.Lys752GlufsTer6
ENST00000644092.1:c.*750_*751insC	ENSP00000496351.1:n.*750_*751insC
ENST00000644900.1:c.303_304insC
ENST00000645339.1:c.2450_2451insC	ENSP00000496441.1:p.Lys818GlufsTer6
ENST00000645506.1:c.2450_2451insC	ENSP00000495455.1:p.Lys818GlufsTer6
ENST00000646415.1:c.2450_2451insC	ENSP00000495543.1:p.Lys818GlufsTer6
ENST00000233146.6:c.2450_2451insC	ENSP00000233146.2:p.Lys818GlufsTer6
ENST00000406134.5:c.2450_2451insC	ENSP00000384199.1:p.Lys818GlufsTer6
ENST00000543555.5:c.2252_2253insC	ENSP00000442697.1:p.Lys752GlufsTer6
ENST00000610696.4:c.*846_*847insC	ENSP00000483159.1:n.*846_*847insC
ENST00000613514.4:c.*990_*991insC	ENSP00000484137.1:n.*990_*991insC
ENST00000617333.3:c.*1216_*1217insC	ENSP00000482468.1:n.*1216_*1217insC
ENST00000617938.4:c.*1422_*1423insC	ENSP00000481158.1:n.*1422_*1423insC
ENST00000621359.2:c.*16_*17insC	ENSP00000481416.1:n.*16_*17insC
NM_000251.2:c.2450_2451insC , LRG_218t1:c.2450_2451insC	NP_000242.1:p.Lys818GlufsTer6
NM_001258281.1:c.2252_2253insC	NP_001245210.1:p.Lys752GlufsTer6
XM_005264332.2:c.2450_2451insC	XP_005264389.2:p.Lys818GlufsTer6
XM_011532867.1:c.2450_2451insC	XP_011531169.1:p.Lys818GlufsTer6
XR_939685.1:n.2522_2523insC
XM_005264332.4:c.2450_2451insC	XP_005264389.2:p.Lys818GlufsTer6
XM_011532867.2:c.2450_2451insC	XP_011531169.1:p.Lys818GlufsTer6
XR_001738747.2:n.2512_2513insC
XR_939685.2:n.2512_2513insC
NM_000251.3:c.2450_2451insC MANE Select	NP_000242.1:p.Lys818GlufsTer6