Canonical Allele Identifier: CA352895687

Gene: GNAI2

Linked Data

• gnomAD v4: 3-50256275-C-T
• COSMIC: COSM5864879 ; COSM5864880
• MyVariant Identifiers: chr3:g.50293707C>T (hg19) ; chr3:g.50256275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256275C>T , CM000665.2:g.50256275C>T	GRCh38
NC_000003.11:g.50293707C>T , CM000665.1:g.50293707C>T	GRCh37
NC_000003.10:g.50268711C>T	NCBI36
NG_016002.2:g.34588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.548C>T MANE Select	ENSP00000312999.6:p.Thr183Met
ENST00000266027.9:c.392C>T	ENSP00000266027.6:p.Thr131Met
ENST00000313601.10:c.548C>T	ENSP00000312999.6:p.Thr183Met
ENST00000422163.5:c.500C>T	ENSP00000406871.1:p.Thr167Met
ENST00000440628.5:c.392C>T	ENSP00000395736.1:p.Thr131Met
ENST00000441156.5:c.*76C>T	ENSP00000394321.1:n.*76C>T
ENST00000446079.5:c.*183C>T	ENSP00000406065.1:n.*183C>T
ENST00000451956.1:c.437C>T	ENSP00000406369.1:p.Thr146Met
ENST00000468422.1:n.115C>T
ENST00000490122.5:n.1375C>T
ENST00000491100.5:n.2364C>T
NM_001166425.1:c.437C>T	NP_001159897.1:p.Thr146Met
NM_001282617.1:c.392C>T	NP_001269546.1:p.Thr131Met
NM_001282618.1:c.305C>T	NP_001269547.1:p.Thr102Met
NM_001282619.1:c.500C>T	NP_001269548.1:p.Thr167Met
NM_001282620.1:c.500C>T	NP_001269549.1:p.Thr167Met
NM_002070.3:c.548C>T	NP_002061.1:p.Thr183Met
NM_002070.4:c.548C>T MANE Select	NP_002061.1:p.Thr183Met
NM_001166425.2:c.437C>T	NP_001159897.1:p.Thr146Met
NM_001282618.2:c.305C>T	NP_001269547.1:p.Thr102Met
NM_001282619.2:c.500C>T	NP_001269548.1:p.Thr167Met
NM_001282620.2:c.500C>T	NP_001269549.1:p.Thr167Met
NM_001282617.2:c.392C>T	NP_001269546.1:p.Thr131Met