Canonical Allele Identifier: CA126033

Gene: GNAI2

Linked Data

• ClinVar Variation Id: 15903
• ClinVar RCV Id: RCV000017250 ; RCV000017251 ; RCV000017252
• dbSNP Id: rs137853226
• gnomAD v4: 3-50256262-C-T
• COSMIC: COSM2851112 ; COSM3595541
• MyVariant Identifiers: chr3:g.50293694C>T (hg19) ; chr3:g.50256262C>T (hg38)
• PubMed: PMID:2116665 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256262C>T , CM000665.2:g.50256262C>T	GRCh38
NC_000003.11:g.50293694C>T , CM000665.1:g.50293694C>T	GRCh37
NC_000003.10:g.50268698C>T	NCBI36
NG_016002.2:g.34575C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313601.11:c.535C>T MANE Select	ENSP00000312999.6:p.Arg179Cys
ENST00000266027.9:c.379C>T	ENSP00000266027.6:p.Arg127Cys
ENST00000313601.10:c.535C>T	ENSP00000312999.6:p.Arg179Cys
ENST00000422163.5:c.487C>T	ENSP00000406871.1:p.Arg163Cys
ENST00000440628.5:c.379C>T	ENSP00000395736.1:p.Arg127Cys
ENST00000441156.5:c.*63C>T	ENSP00000394321.1:n.*63C>T
ENST00000446079.5:c.*170C>T	ENSP00000406065.1:n.*170C>T
ENST00000451956.1:c.424C>T	ENSP00000406369.1:p.Arg142Cys
ENST00000468422.1:n.102C>T
ENST00000490122.5:n.1362C>T
ENST00000491100.5:n.2351C>T
NM_001166425.1:c.424C>T	NP_001159897.1:p.Arg142Cys
NM_001282617.1:c.379C>T	NP_001269546.1:p.Arg127Cys
NM_001282618.1:c.292C>T	NP_001269547.1:p.Arg98Cys
NM_001282619.1:c.487C>T	NP_001269548.1:p.Arg163Cys
NM_001282620.1:c.487C>T	NP_001269549.1:p.Arg163Cys
NM_002070.3:c.535C>T	NP_002061.1:p.Arg179Cys
NM_002070.4:c.535C>T MANE Select	NP_002061.1:p.Arg179Cys
NM_001166425.2:c.424C>T	NP_001159897.1:p.Arg142Cys
NM_001282618.2:c.292C>T	NP_001269547.1:p.Arg98Cys
NM_001282619.2:c.487C>T	NP_001269548.1:p.Arg163Cys
NM_001282620.2:c.487C>T	NP_001269549.1:p.Arg163Cys
NM_001282617.2:c.379C>T	NP_001269546.1:p.Arg127Cys