Canonical Allele Identifier: CA2619330634

Gene: STAT2

Linked Data

• gnomAD v4: 12-56342227-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56342227C>A , CM000674.2:g.56342227C>A	GRCh38
NC_000012.11:g.56736011C>A , CM000674.1:g.56736011C>A	GRCh37
NC_000012.10:g.55022278C>A	NCBI36
NG_046314.1:g.23027G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555488.2:n.3601G>T
ENST00000698178.1:n.4309G>T
ENST00000698179.1:n.4261G>T
ENST00000698180.1:c.*3473G>T	ENSP00000513597.1:n.*3473G>T
ENST00000698181.1:n.4755G>T
ENST00000698182.1:n.4528G>T
ENST00000698183.1:n.4988G>T
ENST00000698184.1:n.4762G>T
ENST00000698185.1:n.4921G>T
ENST00000698186.1:c.*1162G>T	ENSP00000513598.1:n.*1162G>T
ENST00000698187.1:n.4033G>T
ENST00000698188.1:n.4385G>T
ENST00000698189.1:n.5795G>T
ENST00000698190.1:n.3942G>T
ENST00000698191.1:n.3875G>T
ENST00000698192.1:c.*728G>T	ENSP00000513599.1:n.*728G>T
ENST00000314128.9:c.*1162G>T MANE Select	ENSP00000315768.4:n.*1162G>T
ENST00000650805.1:c.*3152G>T	ENSP00000498710.1:n.*3152G>T
ENST00000651078.1:n.4371G>T
ENST00000651301.1:c.*3392G>T	ENSP00000498470.1:n.*3392G>T
ENST00000651805.1:n.4107G>T
ENST00000651915.1:c.*1162G>T	ENSP00000498876.1:n.*1162G>T
ENST00000651934.1:n.4158G>T
ENST00000652091.1:n.4236G>T
ENST00000652624.1:c.*2844G>T	ENSP00000499108.1:n.*2844G>T
ENST00000652741.1:c.*3473G>T	ENSP00000498704.1:n.*3473G>T
ENST00000556539.5:n.2648G>T
NM_005419.3:c.*1162G>T	NP_005410.1:n.*1162G>T
NM_198332.1:c.*1162G>T	NP_938146.1:n.*1162G>T
XM_011538697.2:c.*1162G>T	XP_011536999.1:n.*1162G>T
XM_011538698.3:c.*1162G>T	XP_011537000.1:n.*1162G>T
XM_011538700.2:c.*1162G>T	XP_011537002.1:n.*1162G>T
XM_017019904.2:c.*1162G>T	XP_016875393.1:n.*1162G>T
XR_001748856.1:n.3641G>T
XR_001748857.1:n.3722G>T
XR_001748858.2:n.3599G>T
XR_002957375.1:n.4013G>T
XR_002957376.1:n.3971G>T
NM_005419.4:c.*1162G>T MANE Select	NP_005410.1:n.*1162G>T
NM_198332.2:c.*1162G>T	NP_938146.1:n.*1162G>T
NM_001385110.1:c.*1162G>T	NP_001372039.1:n.*1162G>T
NM_001385111.1:c.*1162G>T	NP_001372040.1:n.*1162G>T
NM_001385113.1:c.*1287G>T	NP_001372042.1:n.*1287G>T
NM_001385114.1:c.*1162G>T	NP_001372043.1:n.*1162G>T
NM_001385115.1:c.*1162G>T	NP_001372044.1:n.*1162G>T