Canonical Allele Identifier: CA2619326672

Gene: STAT2

Linked Data

• gnomAD v4: 12-56346807-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346807A>G , CM000674.2:g.56346807A>G	GRCh38
NC_000012.11:g.56740591A>G , CM000674.1:g.56740591A>G	GRCh37
NC_000012.10:g.55026858A>G	NCBI36
NG_046314.1:g.18447T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1269T>C
ENST00000698178.1:n.2452+12T>C
ENST00000698179.1:n.2404+12T>C
ENST00000698180.1:c.*1616+12T>C	ENSP00000513597.1:n.*1616+12T>C
ENST00000698181.1:n.2898+12T>C
ENST00000698182.1:n.2671+12T>C
ENST00000698183.1:n.3131+12T>C
ENST00000698184.1:n.2723T>C
ENST00000698185.1:n.3064+12T>C
ENST00000698186.1:c.1729+12T>C	ENSP00000513598.1:n.1729+12T>C
ENST00000698187.1:n.2187+12T>C
ENST00000698188.1:n.2528+12T>C
ENST00000698189.1:n.3645+12T>C
ENST00000698190.1:n.2519+12T>C
ENST00000698191.1:n.2452+12T>C
ENST00000698192.1:c.1861+12T>C	ENSP00000513599.1:n.1861+12T>C
ENST00000698193.1:c.1861+12T>C	ENSP00000513600.1:n.1861+12T>C
ENST00000314128.9:c.1861+12T>C MANE Select	ENSP00000315768.4:n.1861+12T>C
ENST00000556140.6:n.2633+12T>C
ENST00000650805.1:c.*1295+12T>C	ENSP00000498710.1:n.*1295+12T>C
ENST00000651078.1:n.2514+12T>C
ENST00000651301.1:c.*1535+12T>C	ENSP00000498470.1:n.*1535+12T>C
ENST00000651339.1:n.568+12T>C
ENST00000651805.1:n.2250+12T>C
ENST00000651915.1:c.1762+12T>C	ENSP00000498876.1:n.1762+12T>C
ENST00000651934.1:n.2301+12T>C
ENST00000651967.1:n.1976+12T>C
ENST00000652091.1:n.2379+12T>C
ENST00000652398.1:c.*1427+12T>C	ENSP00000499022.1:n.*1427+12T>C
ENST00000652624.1:c.*987+12T>C	ENSP00000499108.1:n.*987+12T>C
ENST00000652741.1:c.*1616+12T>C	ENSP00000498704.1:n.*1616+12T>C
ENST00000314128.8:c.1861+12T>C	ENSP00000315768.4:n.1861+12T>C
ENST00000555488.1:n.62T>C
ENST00000556539.5:n.791+12T>C
ENST00000557199.1:n.533T>C
ENST00000557235.5:c.1849+12T>C	ENSP00000450751.1:n.1849+12T>C
NM_005419.3:c.1861+12T>C	NP_005410.1:n.1861+12T>C
NM_198332.1:c.1849+12T>C	NP_938146.1:n.1849+12T>C
XM_011538697.1:c.1885+12T>C	XP_011536999.1:n.1885+12T>C
XM_011538698.1:c.1873+12T>C	XP_011537000.1:n.1873+12T>C
XM_011538700.1:c.1153+12T>C	XP_011537002.1:n.1153+12T>C
XM_011538701.1:c.916+12T>C	XP_011537003.1:n.916+12T>C
XM_011538697.2:c.1885+12T>C	XP_011536999.1:n.1885+12T>C
XM_011538698.3:c.1873+12T>C	XP_011537000.1:n.1873+12T>C
XM_011538700.2:c.1153+12T>C	XP_011537002.1:n.1153+12T>C
XM_017019904.2:c.1129+12T>C	XP_016875393.1:n.1129+12T>C
XR_001748856.1:n.1784+12T>C
XR_001748857.1:n.1865+12T>C
XR_001748858.2:n.1742+12T>C
XR_002957375.1:n.2156+12T>C
XR_002957376.1:n.2114+12T>C
NM_005419.4:c.1861+12T>C MANE Select	NP_005410.1:n.1861+12T>C
NM_198332.2:c.1849+12T>C	NP_938146.1:n.1849+12T>C
NM_001385110.1:c.1828+12T>C	NP_001372039.1:n.1828+12T>C
NM_001385111.1:c.1762+12T>C	NP_001372040.1:n.1762+12T>C
NM_001385113.1:c.1861+12T>C	NP_001372042.1:n.1861+12T>C
NM_001385114.1:c.1840+12T>C	NP_001372043.1:n.1840+12T>C
NM_001385115.1:c.1819+12T>C	NP_001372044.1:n.1819+12T>C