Canonical Allele Identifier: CA214659

Gene: STAT2

Linked Data

• ClinVar Variation Id: 218141
• ClinVar RCV Id: RCV000202385
• dbSNP Id: rs781522558
• MyVariant Identifiers: chr12:g.56740628G>T (hg19) ; chr12:g.56346844G>T (hg38)
• PubMed: PMID:26122121

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346844G>T , CM000674.2:g.56346844G>T	GRCh38
NC_000012.11:g.56740628G>T , CM000674.1:g.56740628G>T	GRCh37
NC_000012.10:g.55026895G>T	NCBI36
NG_046314.1:g.18410C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1232C>A
ENST00000698178.1:n.2427C>A
ENST00000698179.1:n.2379C>A
ENST00000698180.1:c.*1591C>A	ENSP00000513597.1:n.*1591C>A
ENST00000698181.1:n.2873C>A
ENST00000698182.1:n.2646C>A
ENST00000698183.1:n.3106C>A
ENST00000698184.1:n.2686C>A
ENST00000698185.1:n.3039C>A
ENST00000698186.1:c.1704C>A	ENSP00000513598.1:p.Cys568Ter
ENST00000698187.1:n.2162C>A
ENST00000698188.1:n.2503C>A
ENST00000698189.1:n.3620C>A
ENST00000698190.1:n.2494C>A
ENST00000698191.1:n.2427C>A
ENST00000698192.1:c.1836C>A	ENSP00000513599.1:p.Cys612Ter
ENST00000698193.1:c.1836C>A	ENSP00000513600.1:p.Cys612Ter
ENST00000314128.9:c.1836C>A MANE Select	ENSP00000315768.4:p.Cys612Ter
ENST00000556140.6:n.2608C>A
ENST00000650805.1:c.*1270C>A	ENSP00000498710.1:n.*1270C>A
ENST00000651078.1:n.2489C>A
ENST00000651301.1:c.*1510C>A	ENSP00000498470.1:n.*1510C>A
ENST00000651339.1:n.543C>A
ENST00000651805.1:n.2225C>A
ENST00000651915.1:c.1737C>A	ENSP00000498876.1:p.Cys579Ter
ENST00000651934.1:n.2276C>A
ENST00000651967.1:n.1951C>A
ENST00000652091.1:n.2354C>A
ENST00000652398.1:c.*1402C>A	ENSP00000499022.1:n.*1402C>A
ENST00000652624.1:c.*962C>A	ENSP00000499108.1:n.*962C>A
ENST00000652741.1:c.*1591C>A	ENSP00000498704.1:n.*1591C>A
ENST00000314128.8:c.1836C>A	ENSP00000315768.4:p.Cys612Ter
ENST00000555488.1:n.25C>A
ENST00000556539.5:n.766C>A
ENST00000557199.1:n.496C>A
ENST00000557235.5:c.1824C>A	ENSP00000450751.1:p.Cys608Ter
NM_005419.3:c.1836C>A	NP_005410.1:p.Cys612Ter
NM_198332.1:c.1824C>A	NP_938146.1:p.Cys608Ter
XM_011538697.1:c.1860C>A	XP_011536999.1:p.Cys620Ter
XM_011538698.1:c.1848C>A	XP_011537000.1:p.Cys616Ter
XM_011538700.1:c.1128C>A	XP_011537002.1:p.Cys376Ter
XM_011538701.1:c.891C>A	XP_011537003.1:p.Cys297Ter
XM_011538697.2:c.1860C>A	XP_011536999.1:p.Cys620Ter
XM_011538698.3:c.1848C>A	XP_011537000.1:p.Cys616Ter
XM_011538700.2:c.1128C>A	XP_011537002.1:p.Cys376Ter
XM_017019904.2:c.1104C>A	XP_016875393.1:p.Cys368Ter
XR_001748856.1:n.1759C>A
XR_001748857.1:n.1840C>A
XR_001748858.2:n.1717C>A
XR_002957375.1:n.2131C>A
XR_002957376.1:n.2089C>A
NM_005419.4:c.1836C>A MANE Select	NP_005410.1:p.Cys612Ter
NM_198332.2:c.1824C>A	NP_938146.1:p.Cys608Ter
NM_001385110.1:c.1803C>A	NP_001372039.1:p.Cys601Ter
NM_001385111.1:c.1737C>A	NP_001372040.1:p.Cys579Ter
NM_001385113.1:c.1836C>A	NP_001372042.1:p.Cys612Ter
NM_001385114.1:c.1815C>A	NP_001372043.1:p.Cys605Ter
NM_001385115.1:c.1794C>A	NP_001372044.1:p.Cys598Ter