Canonical Allele Identifier: CA035718

Gene: MSH2

Linked Data

• ClinVar Variation Id: 219534
• ClinVar RCV Id: RCV000205485 ; RCV000480146 ; RCV000568311 ; RCV000708843
• dbSNP Id: rs758889557
• ExAC: 2:47705617 C / T
• gnomAD v2: 2-47705617-C-T
• gnomAD v3: 2-47478478-C-T
• gnomAD v4: 2-47478478-C-T
• MyVariant Identifiers: chr2:g.47705617C>T (hg19) ; chr2:g.47478478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478478C>T , CM000664.2:g.47478478C>T	GRCh38
NC_000002.11:g.47705617C>T , CM000664.1:g.47705617C>T	GRCh37
NC_000002.10:g.47559121C>T	NCBI36
NG_007110.2:g.80355C>T , LRG_218:g.80355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2417C>T	ENSP00000495641.2:p.Thr806Ile
ENST00000233146.7:c.2417C>T MANE Select	ENSP00000233146.2:p.Thr806Ile
ENST00000543555.6:c.2219C>T	ENSP00000442697.1:p.Thr740Ile
ENST00000644092.1:c.*717C>T	ENSP00000496351.1:n.*717C>T
ENST00000644900.1:c.270C>T
ENST00000645339.1:c.2417C>T	ENSP00000496441.1:p.Thr806Ile
ENST00000645506.1:c.2417C>T	ENSP00000495455.1:p.Thr806Ile
ENST00000646415.1:c.2417C>T	ENSP00000495543.1:p.Thr806Ile
ENST00000233146.6:c.2417C>T	ENSP00000233146.2:p.Thr806Ile
ENST00000406134.5:c.2417C>T	ENSP00000384199.1:p.Thr806Ile
ENST00000543555.5:c.2219C>T	ENSP00000442697.1:p.Thr740Ile
ENST00000610696.4:c.*813C>T	ENSP00000483159.1:n.*813C>T
ENST00000613514.4:c.*957C>T	ENSP00000484137.1:n.*957C>T
ENST00000617333.3:c.*1183C>T	ENSP00000482468.1:n.*1183C>T
ENST00000617938.4:c.*1389C>T	ENSP00000481158.1:n.*1389C>T
ENST00000621359.2:c.2416C>T	ENSP00000481416.1:p.Pro806Ser
NM_000251.2:c.2417C>T , LRG_218t1:c.2417C>T	NP_000242.1:p.Thr806Ile
NM_001258281.1:c.2219C>T	NP_001245210.1:p.Thr740Ile
XM_005264332.2:c.2417C>T	XP_005264389.2:p.Thr806Ile
XM_011532867.1:c.2417C>T	XP_011531169.1:p.Thr806Ile
XR_939685.1:n.2489C>T
XM_005264332.4:c.2417C>T	XP_005264389.2:p.Thr806Ile
XM_011532867.2:c.2417C>T	XP_011531169.1:p.Thr806Ile
XR_001738747.2:n.2479C>T
XR_939685.2:n.2479C>T
NM_000251.3:c.2417C>T MANE Select	NP_000242.1:p.Thr806Ile