Canonical Allele Identifier: CA2619330615

Gene: STAT2

Linked Data

• gnomAD v4: 12-56342220-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56342220C>A , CM000674.2:g.56342220C>A	GRCh38
NC_000012.11:g.56736004C>A , CM000674.1:g.56736004C>A	GRCh37
NC_000012.10:g.55022271C>A	NCBI36
NG_046314.1:g.23034G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.3608G>T
ENST00000698178.1:n.4316G>T
ENST00000698179.1:n.4268G>T
ENST00000698180.1:c.*3480G>T	ENSP00000513597.1:n.*3480G>T
ENST00000698181.1:n.4762G>T
ENST00000698182.1:n.4535G>T
ENST00000698183.1:n.4995G>T
ENST00000698184.1:n.4769G>T
ENST00000698185.1:n.4928G>T
ENST00000698186.1:c.*1169G>T	ENSP00000513598.1:n.*1169G>T
ENST00000698187.1:n.4040G>T
ENST00000698188.1:n.4392G>T
ENST00000698189.1:n.5802G>T
ENST00000698190.1:n.3949G>T
ENST00000698191.1:n.3882G>T
ENST00000698192.1:c.*735G>T	ENSP00000513599.1:n.*735G>T
ENST00000314128.9:c.*1169G>T MANE Select	ENSP00000315768.4:n.*1169G>T
ENST00000650805.1:c.*3159G>T	ENSP00000498710.1:n.*3159G>T
ENST00000651078.1:n.4378G>T
ENST00000651301.1:c.*3399G>T	ENSP00000498470.1:n.*3399G>T
ENST00000651805.1:n.4114G>T
ENST00000651915.1:c.*1169G>T	ENSP00000498876.1:n.*1169G>T
ENST00000651934.1:n.4165G>T
ENST00000652091.1:n.4243G>T
ENST00000652624.1:c.*2851G>T	ENSP00000499108.1:n.*2851G>T
ENST00000652741.1:c.*3480G>T	ENSP00000498704.1:n.*3480G>T
ENST00000556539.5:n.2655G>T
NM_005419.3:c.*1169G>T	NP_005410.1:n.*1169G>T
NM_198332.1:c.*1169G>T	NP_938146.1:n.*1169G>T
XM_011538697.2:c.*1169G>T	XP_011536999.1:n.*1169G>T
XM_011538698.3:c.*1169G>T	XP_011537000.1:n.*1169G>T
XM_011538700.2:c.*1169G>T	XP_011537002.1:n.*1169G>T
XM_017019904.2:c.*1169G>T	XP_016875393.1:n.*1169G>T
XR_001748856.1:n.3648G>T
XR_001748857.1:n.3729G>T
XR_001748858.2:n.3606G>T
XR_002957375.1:n.4020G>T
XR_002957376.1:n.3978G>T
NM_005419.4:c.*1169G>T MANE Select	NP_005410.1:n.*1169G>T
NM_198332.2:c.*1169G>T	NP_938146.1:n.*1169G>T
NM_001385110.1:c.*1169G>T	NP_001372039.1:n.*1169G>T
NM_001385111.1:c.*1169G>T	NP_001372040.1:n.*1169G>T
NM_001385113.1:c.*1294G>T	NP_001372042.1:n.*1294G>T
NM_001385114.1:c.*1169G>T	NP_001372043.1:n.*1169G>T
NM_001385115.1:c.*1169G>T	NP_001372044.1:n.*1169G>T