Canonical Allele Identifier: CA480211112

Gene: STAT2

Linked Data

• MyVariant Identifiers: chr12:g.56740685G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346901G>A , CM000674.2:g.56346901G>A	GRCh38
NC_000012.11:g.56740685G>A , CM000674.1:g.56740685G>A	GRCh37
NC_000012.10:g.55026952G>A	NCBI36
NG_046314.1:g.18353C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1175C>T
ENST00000698178.1:n.2370C>T
ENST00000698179.1:n.2322C>T
ENST00000698180.1:c.*1534C>T	ENSP00000513597.1:n.*1534C>T
ENST00000698181.1:n.2816C>T
ENST00000698182.1:n.2589C>T
ENST00000698183.1:n.3049C>T
ENST00000698184.1:n.2629C>T
ENST00000698185.1:n.2982C>T
ENST00000698186.1:c.1647C>T	ENSP00000513598.1:p.Thr549=
ENST00000698187.1:n.2105C>T
ENST00000698188.1:n.2446C>T
ENST00000698189.1:n.3563C>T
ENST00000698190.1:n.2437C>T
ENST00000698191.1:n.2370C>T
ENST00000698192.1:c.1779C>T	ENSP00000513599.1:p.Thr593=
ENST00000698193.1:c.1779C>T	ENSP00000513600.1:p.Thr593=
ENST00000314128.9:c.1779C>T MANE Select	ENSP00000315768.4:p.Thr593=
ENST00000556140.6:n.2551C>T
ENST00000650805.1:c.*1213C>T	ENSP00000498710.1:n.*1213C>T
ENST00000651078.1:n.2432C>T
ENST00000651301.1:c.*1453C>T	ENSP00000498470.1:n.*1453C>T
ENST00000651339.1:n.486C>T
ENST00000651805.1:n.2168C>T
ENST00000651915.1:c.1680C>T	ENSP00000498876.1:p.Thr560=
ENST00000651934.1:n.2219C>T
ENST00000651967.1:n.1894C>T
ENST00000652091.1:n.2297C>T
ENST00000652398.1:c.*1345C>T	ENSP00000499022.1:n.*1345C>T
ENST00000652624.1:c.*905C>T	ENSP00000499108.1:n.*905C>T
ENST00000652741.1:c.*1534C>T	ENSP00000498704.1:n.*1534C>T
ENST00000314128.8:c.1779C>T	ENSP00000315768.4:p.Thr593=
ENST00000556539.5:n.709C>T
ENST00000557199.1:n.439C>T
ENST00000557235.5:c.1767C>T	ENSP00000450751.1:p.Thr589=
NM_005419.3:c.1779C>T	NP_005410.1:p.Thr593=
NM_198332.1:c.1767C>T	NP_938146.1:p.Thr589=
XM_011538697.1:c.1803C>T	XP_011536999.1:p.Thr601=
XM_011538698.1:c.1791C>T	XP_011537000.1:p.Thr597=
XM_011538700.1:c.1071C>T	XP_011537002.1:p.Thr357=
XM_011538701.1:c.834C>T	XP_011537003.1:p.Thr278=
XM_011538697.2:c.1803C>T	XP_011536999.1:p.Thr601=
XM_011538698.3:c.1791C>T	XP_011537000.1:p.Thr597=
XM_011538700.2:c.1071C>T	XP_011537002.1:p.Thr357=
XM_017019904.2:c.1047C>T	XP_016875393.1:p.Thr349=
XR_001748856.1:n.1702C>T
XR_001748857.1:n.1783C>T
XR_001748858.2:n.1660C>T
XR_002957375.1:n.2074C>T
XR_002957376.1:n.2032C>T
NM_005419.4:c.1779C>T MANE Select	NP_005410.1:p.Thr593=
NM_198332.2:c.1767C>T	NP_938146.1:p.Thr589=
NM_001385110.1:c.1746C>T	NP_001372039.1:p.Thr582=
NM_001385111.1:c.1680C>T	NP_001372040.1:p.Thr560=
NM_001385113.1:c.1779C>T	NP_001372042.1:p.Thr593=
NM_001385114.1:c.1758C>T	NP_001372043.1:p.Thr586=
NM_001385115.1:c.1737C>T	NP_001372044.1:p.Thr579=