Canonical Allele Identifier: CA2619330644

Gene: STAT2

Linked Data

• gnomAD v4: 12-56342229-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56342229G>A , CM000674.2:g.56342229G>A	GRCh38
NC_000012.11:g.56736013G>A , CM000674.1:g.56736013G>A	GRCh37
NC_000012.10:g.55022280G>A	NCBI36
NG_046314.1:g.23025C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.3599C>T
ENST00000698178.1:n.4307C>T
ENST00000698179.1:n.4259C>T
ENST00000698180.1:c.*3471C>T	ENSP00000513597.1:n.*3471C>T
ENST00000698181.1:n.4753C>T
ENST00000698182.1:n.4526C>T
ENST00000698183.1:n.4986C>T
ENST00000698184.1:n.4760C>T
ENST00000698185.1:n.4919C>T
ENST00000698186.1:c.*1160C>T	ENSP00000513598.1:n.*1160C>T
ENST00000698187.1:n.4031C>T
ENST00000698188.1:n.4383C>T
ENST00000698189.1:n.5793C>T
ENST00000698190.1:n.3940C>T
ENST00000698191.1:n.3873C>T
ENST00000698192.1:c.*726C>T	ENSP00000513599.1:n.*726C>T
ENST00000314128.9:c.*1160C>T MANE Select	ENSP00000315768.4:n.*1160C>T
ENST00000650805.1:c.*3150C>T	ENSP00000498710.1:n.*3150C>T
ENST00000651078.1:n.4369C>T
ENST00000651301.1:c.*3390C>T	ENSP00000498470.1:n.*3390C>T
ENST00000651805.1:n.4105C>T
ENST00000651915.1:c.*1160C>T	ENSP00000498876.1:n.*1160C>T
ENST00000651934.1:n.4156C>T
ENST00000652091.1:n.4234C>T
ENST00000652624.1:c.*2842C>T	ENSP00000499108.1:n.*2842C>T
ENST00000652741.1:c.*3471C>T	ENSP00000498704.1:n.*3471C>T
ENST00000556539.5:n.2646C>T
NM_005419.3:c.*1160C>T	NP_005410.1:n.*1160C>T
NM_198332.1:c.*1160C>T	NP_938146.1:n.*1160C>T
XM_011538697.2:c.*1160C>T	XP_011536999.1:n.*1160C>T
XM_011538698.3:c.*1160C>T	XP_011537000.1:n.*1160C>T
XM_011538700.2:c.*1160C>T	XP_011537002.1:n.*1160C>T
XM_017019904.2:c.*1160C>T	XP_016875393.1:n.*1160C>T
XR_001748856.1:n.3639C>T
XR_001748857.1:n.3720C>T
XR_001748858.2:n.3597C>T
XR_002957375.1:n.4011C>T
XR_002957376.1:n.3969C>T
NM_005419.4:c.*1160C>T MANE Select	NP_005410.1:n.*1160C>T
NM_198332.2:c.*1160C>T	NP_938146.1:n.*1160C>T
NM_001385110.1:c.*1160C>T	NP_001372039.1:n.*1160C>T
NM_001385111.1:c.*1160C>T	NP_001372040.1:n.*1160C>T
NM_001385113.1:c.*1285C>T	NP_001372042.1:n.*1285C>T
NM_001385114.1:c.*1160C>T	NP_001372043.1:n.*1160C>T
NM_001385115.1:c.*1160C>T	NP_001372044.1:n.*1160C>T