Canonical Allele Identifier: CA385260090

Gene: STAT2

Linked Data

• MyVariant Identifiers: chr12:g.56740690T>C (hg19) ; chr12:g.56346906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346906T>C , CM000674.2:g.56346906T>C	GRCh38
NC_000012.11:g.56740690T>C , CM000674.1:g.56740690T>C	GRCh37
NC_000012.10:g.55026957T>C	NCBI36
NG_046314.1:g.18348A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1170A>G
ENST00000698178.1:n.2365A>G
ENST00000698179.1:n.2317A>G
ENST00000698180.1:c.*1529A>G	ENSP00000513597.1:n.*1529A>G
ENST00000698181.1:n.2811A>G
ENST00000698182.1:n.2584A>G
ENST00000698183.1:n.3044A>G
ENST00000698184.1:n.2624A>G
ENST00000698185.1:n.2977A>G
ENST00000698186.1:c.1642A>G	ENSP00000513598.1:p.Lys548Glu
ENST00000698187.1:n.2100A>G
ENST00000698188.1:n.2441A>G
ENST00000698189.1:n.3558A>G
ENST00000698190.1:n.2432A>G
ENST00000698191.1:n.2365A>G
ENST00000698192.1:c.1774A>G	ENSP00000513599.1:p.Lys592Glu
ENST00000698193.1:c.1774A>G	ENSP00000513600.1:p.Lys592Glu
ENST00000314128.9:c.1774A>G MANE Select	ENSP00000315768.4:p.Lys592Glu
ENST00000556140.6:n.2546A>G
ENST00000650805.1:c.*1208A>G	ENSP00000498710.1:n.*1208A>G
ENST00000651078.1:n.2427A>G
ENST00000651301.1:c.*1448A>G	ENSP00000498470.1:n.*1448A>G
ENST00000651339.1:n.481A>G
ENST00000651805.1:n.2163A>G
ENST00000651915.1:c.1675A>G	ENSP00000498876.1:p.Lys559Glu
ENST00000651934.1:n.2214A>G
ENST00000651967.1:n.1889A>G
ENST00000652091.1:n.2292A>G
ENST00000652398.1:c.*1340A>G	ENSP00000499022.1:n.*1340A>G
ENST00000652624.1:c.*900A>G	ENSP00000499108.1:n.*900A>G
ENST00000652741.1:c.*1529A>G	ENSP00000498704.1:n.*1529A>G
ENST00000314128.8:c.1774A>G	ENSP00000315768.4:p.Lys592Glu
ENST00000556539.5:n.704A>G
ENST00000557199.1:n.434A>G
ENST00000557235.5:c.1762A>G	ENSP00000450751.1:p.Lys588Glu
NM_005419.3:c.1774A>G	NP_005410.1:p.Lys592Glu
NM_198332.1:c.1762A>G	NP_938146.1:p.Lys588Glu
XM_011538697.1:c.1798A>G	XP_011536999.1:p.Lys600Glu
XM_011538698.1:c.1786A>G	XP_011537000.1:p.Lys596Glu
XM_011538700.1:c.1066A>G	XP_011537002.1:p.Lys356Glu
XM_011538701.1:c.829A>G	XP_011537003.1:p.Lys277Glu
XM_011538697.2:c.1798A>G	XP_011536999.1:p.Lys600Glu
XM_011538698.3:c.1786A>G	XP_011537000.1:p.Lys596Glu
XM_011538700.2:c.1066A>G	XP_011537002.1:p.Lys356Glu
XM_017019904.2:c.1042A>G	XP_016875393.1:p.Lys348Glu
XR_001748856.1:n.1697A>G
XR_001748857.1:n.1778A>G
XR_001748858.2:n.1655A>G
XR_002957375.1:n.2069A>G
XR_002957376.1:n.2027A>G
NM_005419.4:c.1774A>G MANE Select	NP_005410.1:p.Lys592Glu
NM_198332.2:c.1762A>G	NP_938146.1:p.Lys588Glu
NM_001385110.1:c.1741A>G	NP_001372039.1:p.Lys581Glu
NM_001385111.1:c.1675A>G	NP_001372040.1:p.Lys559Glu
NM_001385113.1:c.1774A>G	NP_001372042.1:p.Lys592Glu
NM_001385114.1:c.1753A>G	NP_001372043.1:p.Lys585Glu
NM_001385115.1:c.1732A>G	NP_001372044.1:p.Lys578Glu