Canonical Allele Identifier: CA385260095

Gene: STAT2

Linked Data

• MyVariant Identifiers: chr12:g.56740692T>C (hg19) ; chr12:g.56346908T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346908T>C , CM000674.2:g.56346908T>C	GRCh38
NC_000012.11:g.56740692T>C , CM000674.1:g.56740692T>C	GRCh37
NC_000012.10:g.55026959T>C	NCBI36
NG_046314.1:g.18346A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1168A>G
ENST00000698178.1:n.2363A>G
ENST00000698179.1:n.2315A>G
ENST00000698180.1:c.*1527A>G	ENSP00000513597.1:n.*1527A>G
ENST00000698181.1:n.2809A>G
ENST00000698182.1:n.2582A>G
ENST00000698183.1:n.3042A>G
ENST00000698184.1:n.2622A>G
ENST00000698185.1:n.2975A>G
ENST00000698186.1:c.1640A>G	ENSP00000513598.1:p.Lys547Arg
ENST00000698187.1:n.2098A>G
ENST00000698188.1:n.2439A>G
ENST00000698189.1:n.3556A>G
ENST00000698190.1:n.2430A>G
ENST00000698191.1:n.2363A>G
ENST00000698192.1:c.1772A>G	ENSP00000513599.1:p.Lys591Arg
ENST00000698193.1:c.1772A>G	ENSP00000513600.1:p.Lys591Arg
ENST00000314128.9:c.1772A>G MANE Select	ENSP00000315768.4:p.Lys591Arg
ENST00000556140.6:n.2544A>G
ENST00000650805.1:c.*1206A>G	ENSP00000498710.1:n.*1206A>G
ENST00000651078.1:n.2425A>G
ENST00000651301.1:c.*1446A>G	ENSP00000498470.1:n.*1446A>G
ENST00000651339.1:n.479A>G
ENST00000651805.1:n.2161A>G
ENST00000651915.1:c.1673A>G	ENSP00000498876.1:p.Lys558Arg
ENST00000651934.1:n.2212A>G
ENST00000651967.1:n.1887A>G
ENST00000652091.1:n.2290A>G
ENST00000652398.1:c.*1338A>G	ENSP00000499022.1:n.*1338A>G
ENST00000652624.1:c.*898A>G	ENSP00000499108.1:n.*898A>G
ENST00000652741.1:c.*1527A>G	ENSP00000498704.1:n.*1527A>G
ENST00000314128.8:c.1772A>G	ENSP00000315768.4:p.Lys591Arg
ENST00000556539.5:n.702A>G
ENST00000557199.1:n.432A>G
ENST00000557235.5:c.1760A>G	ENSP00000450751.1:p.Lys587Arg
NM_005419.3:c.1772A>G	NP_005410.1:p.Lys591Arg
NM_198332.1:c.1760A>G	NP_938146.1:p.Lys587Arg
XM_011538697.1:c.1796A>G	XP_011536999.1:p.Lys599Arg
XM_011538698.1:c.1784A>G	XP_011537000.1:p.Lys595Arg
XM_011538700.1:c.1064A>G	XP_011537002.1:p.Lys355Arg
XM_011538701.1:c.827A>G	XP_011537003.1:p.Lys276Arg
XM_011538697.2:c.1796A>G	XP_011536999.1:p.Lys599Arg
XM_011538698.3:c.1784A>G	XP_011537000.1:p.Lys595Arg
XM_011538700.2:c.1064A>G	XP_011537002.1:p.Lys355Arg
XM_017019904.2:c.1040A>G	XP_016875393.1:p.Lys347Arg
XR_001748856.1:n.1695A>G
XR_001748857.1:n.1776A>G
XR_001748858.2:n.1653A>G
XR_002957375.1:n.2067A>G
XR_002957376.1:n.2025A>G
NM_005419.4:c.1772A>G MANE Select	NP_005410.1:p.Lys591Arg
NM_198332.2:c.1760A>G	NP_938146.1:p.Lys587Arg
NM_001385110.1:c.1739A>G	NP_001372039.1:p.Lys580Arg
NM_001385111.1:c.1673A>G	NP_001372040.1:p.Lys558Arg
NM_001385113.1:c.1772A>G	NP_001372042.1:p.Lys591Arg
NM_001385114.1:c.1751A>G	NP_001372043.1:p.Lys584Arg
NM_001385115.1:c.1730A>G	NP_001372044.1:p.Lys577Arg