Canonical Allele Identifier: CA480211117

Gene: STAT2

Linked Data

• ClinVar Variation Id: 2643091
• ClinVar RCV Id: RCV003390259
• dbSNP Id: rs1238799933
• gnomAD v2: 12-56740688-C-T
• gnomAD v4: 12-56346904-C-T
• MyVariant Identifiers: chr12:g.56740688C>T (hg19) ; chr12:g.56346904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56346904C>T , CM000674.2:g.56346904C>T	GRCh38
NC_000012.11:g.56740688C>T , CM000674.1:g.56740688C>T	GRCh37
NC_000012.10:g.55026955C>T	NCBI36
NG_046314.1:g.18350G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.1172G>A
ENST00000698178.1:n.2367G>A
ENST00000698179.1:n.2319G>A
ENST00000698180.1:c.*1531G>A	ENSP00000513597.1:n.*1531G>A
ENST00000698181.1:n.2813G>A
ENST00000698182.1:n.2586G>A
ENST00000698183.1:n.3046G>A
ENST00000698184.1:n.2626G>A
ENST00000698185.1:n.2979G>A
ENST00000698186.1:c.1644G>A	ENSP00000513598.1:p.Lys548=
ENST00000698187.1:n.2102G>A
ENST00000698188.1:n.2443G>A
ENST00000698189.1:n.3560G>A
ENST00000698190.1:n.2434G>A
ENST00000698191.1:n.2367G>A
ENST00000698192.1:c.1776G>A	ENSP00000513599.1:p.Lys592=
ENST00000698193.1:c.1776G>A	ENSP00000513600.1:p.Lys592=
ENST00000314128.9:c.1776G>A MANE Select	ENSP00000315768.4:p.Lys592=
ENST00000556140.6:n.2548G>A
ENST00000650805.1:c.*1210G>A	ENSP00000498710.1:n.*1210G>A
ENST00000651078.1:n.2429G>A
ENST00000651301.1:c.*1450G>A	ENSP00000498470.1:n.*1450G>A
ENST00000651339.1:n.483G>A
ENST00000651805.1:n.2165G>A
ENST00000651915.1:c.1677G>A	ENSP00000498876.1:p.Lys559=
ENST00000651934.1:n.2216G>A
ENST00000651967.1:n.1891G>A
ENST00000652091.1:n.2294G>A
ENST00000652398.1:c.*1342G>A	ENSP00000499022.1:n.*1342G>A
ENST00000652624.1:c.*902G>A	ENSP00000499108.1:n.*902G>A
ENST00000652741.1:c.*1531G>A	ENSP00000498704.1:n.*1531G>A
ENST00000314128.8:c.1776G>A	ENSP00000315768.4:p.Lys592=
ENST00000556539.5:n.706G>A
ENST00000557199.1:n.436G>A
ENST00000557235.5:c.1764G>A	ENSP00000450751.1:p.Lys588=
NM_005419.3:c.1776G>A	NP_005410.1:p.Lys592=
NM_198332.1:c.1764G>A	NP_938146.1:p.Lys588=
XM_011538697.1:c.1800G>A	XP_011536999.1:p.Lys600=
XM_011538698.1:c.1788G>A	XP_011537000.1:p.Lys596=
XM_011538700.1:c.1068G>A	XP_011537002.1:p.Lys356=
XM_011538701.1:c.831G>A	XP_011537003.1:p.Lys277=
XM_011538697.2:c.1800G>A	XP_011536999.1:p.Lys600=
XM_011538698.3:c.1788G>A	XP_011537000.1:p.Lys596=
XM_011538700.2:c.1068G>A	XP_011537002.1:p.Lys356=
XM_017019904.2:c.1044G>A	XP_016875393.1:p.Lys348=
XR_001748856.1:n.1699G>A
XR_001748857.1:n.1780G>A
XR_001748858.2:n.1657G>A
XR_002957375.1:n.2071G>A
XR_002957376.1:n.2029G>A
NM_005419.4:c.1776G>A MANE Select	NP_005410.1:p.Lys592=
NM_198332.2:c.1764G>A	NP_938146.1:p.Lys588=
NM_001385110.1:c.1743G>A	NP_001372039.1:p.Lys581=
NM_001385111.1:c.1677G>A	NP_001372040.1:p.Lys559=
NM_001385113.1:c.1776G>A	NP_001372042.1:p.Lys592=
NM_001385114.1:c.1755G>A	NP_001372043.1:p.Lys585=
NM_001385115.1:c.1734G>A	NP_001372044.1:p.Lys578=