Canonical Allele Identifier: CA385260102

Gene: STAT2

Linked Data

• MyVariant Identifiers: chr12:g.56740695A>C (hg19) ; chr12:g.56346911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346911A>C , CM000674.2:g.56346911A>C	GRCh38
NC_000012.11:g.56740695A>C , CM000674.1:g.56740695A>C	GRCh37
NC_000012.10:g.55026962A>C	NCBI36
NG_046314.1:g.18343T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1165T>G
ENST00000698178.1:n.2360T>G
ENST00000698179.1:n.2312T>G
ENST00000698180.1:c.*1524T>G	ENSP00000513597.1:n.*1524T>G
ENST00000698181.1:n.2806T>G
ENST00000698182.1:n.2579T>G
ENST00000698183.1:n.3039T>G
ENST00000698184.1:n.2619T>G
ENST00000698185.1:n.2972T>G
ENST00000698186.1:c.1637T>G	ENSP00000513598.1:p.Leu546Arg
ENST00000698187.1:n.2095T>G
ENST00000698188.1:n.2436T>G
ENST00000698189.1:n.3553T>G
ENST00000698190.1:n.2427T>G
ENST00000698191.1:n.2360T>G
ENST00000698192.1:c.1769T>G	ENSP00000513599.1:p.Leu590Arg
ENST00000698193.1:c.1769T>G	ENSP00000513600.1:p.Leu590Arg
ENST00000314128.9:c.1769T>G MANE Select	ENSP00000315768.4:p.Leu590Arg
ENST00000556140.6:n.2541T>G
ENST00000650805.1:c.*1203T>G	ENSP00000498710.1:n.*1203T>G
ENST00000651078.1:n.2422T>G
ENST00000651301.1:c.*1443T>G	ENSP00000498470.1:n.*1443T>G
ENST00000651339.1:n.476T>G
ENST00000651805.1:n.2158T>G
ENST00000651915.1:c.1670T>G	ENSP00000498876.1:p.Leu557Arg
ENST00000651934.1:n.2209T>G
ENST00000651967.1:n.1884T>G
ENST00000652091.1:n.2287T>G
ENST00000652398.1:c.*1335T>G	ENSP00000499022.1:n.*1335T>G
ENST00000652624.1:c.*895T>G	ENSP00000499108.1:n.*895T>G
ENST00000652741.1:c.*1524T>G	ENSP00000498704.1:n.*1524T>G
ENST00000314128.8:c.1769T>G	ENSP00000315768.4:p.Leu590Arg
ENST00000556539.5:n.699T>G
ENST00000557199.1:n.429T>G
ENST00000557235.5:c.1757T>G	ENSP00000450751.1:p.Leu586Arg
NM_005419.3:c.1769T>G	NP_005410.1:p.Leu590Arg
NM_198332.1:c.1757T>G	NP_938146.1:p.Leu586Arg
XM_011538697.1:c.1793T>G	XP_011536999.1:p.Leu598Arg
XM_011538698.1:c.1781T>G	XP_011537000.1:p.Leu594Arg
XM_011538700.1:c.1061T>G	XP_011537002.1:p.Leu354Arg
XM_011538701.1:c.824T>G	XP_011537003.1:p.Leu275Arg
XM_011538697.2:c.1793T>G	XP_011536999.1:p.Leu598Arg
XM_011538698.3:c.1781T>G	XP_011537000.1:p.Leu594Arg
XM_011538700.2:c.1061T>G	XP_011537002.1:p.Leu354Arg
XM_017019904.2:c.1037T>G	XP_016875393.1:p.Leu346Arg
XR_001748856.1:n.1692T>G
XR_001748857.1:n.1773T>G
XR_001748858.2:n.1650T>G
XR_002957375.1:n.2064T>G
XR_002957376.1:n.2022T>G
NM_005419.4:c.1769T>G MANE Select	NP_005410.1:p.Leu590Arg
NM_198332.2:c.1757T>G	NP_938146.1:p.Leu586Arg
NM_001385110.1:c.1736T>G	NP_001372039.1:p.Leu579Arg
NM_001385111.1:c.1670T>G	NP_001372040.1:p.Leu557Arg
NM_001385113.1:c.1769T>G	NP_001372042.1:p.Leu590Arg
NM_001385114.1:c.1748T>G	NP_001372043.1:p.Leu583Arg
NM_001385115.1:c.1727T>G	NP_001372044.1:p.Leu576Arg