Canonical Allele Identifier: CA126039
Gene: GNAI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15906
ClinVar RCV Id: RCV000017257
dbSNP Id: rs137853228

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50256729T>A , CM000665.2:g.50256729T>A GRCh38
NC_000003.11:g.50294161T>A , CM000665.1:g.50294161T>A GRCh37
NC_000003.10:g.50269165T>A NCBI36
NG_016002.2:g.35042T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000313601.11:c.600T>A MANE Select ENSP00000312999.6:p.Phe200Leu
ENST00000266027.9:c.444T>A ENSP00000266027.6:p.Phe148Leu
ENST00000313601.10:c.600T>A ENSP00000312999.6:p.Phe200Leu
ENST00000422163.5:c.552T>A ENSP00000406871.1:p.Phe184Leu
ENST00000440628.5:c.444T>A ENSP00000395736.1:p.Phe148Leu
ENST00000441156.5:c.*128T>A ENSP00000394321.1:n.*128T>A
ENST00000446079.5:c.*235T>A ENSP00000406065.1:n.*235T>A
ENST00000451956.1:c.489T>A ENSP00000406369.1:p.Phe163Leu
ENST00000490122.5:n.1427T>A
ENST00000491100.5:n.2416T>A
ENST00000492383.1:n.45T>A
NM_001166425.1:c.489T>A NP_001159897.1:p.Phe163Leu
NM_001282617.1:c.444T>A NP_001269546.1:p.Phe148Leu
NM_001282618.1:c.357T>A NP_001269547.1:p.Phe119Leu
NM_001282619.1:c.552T>A NP_001269548.1:p.Phe184Leu
NM_001282620.1:c.552T>A NP_001269549.1:p.Phe184Leu
NM_002070.3:c.600T>A NP_002061.1:p.Phe200Leu
NM_002070.4:c.600T>A MANE Select NP_002061.1:p.Phe200Leu
NM_001166425.2:c.489T>A NP_001159897.1:p.Phe163Leu
NM_001282618.2:c.357T>A NP_001269547.1:p.Phe119Leu
NM_001282619.2:c.552T>A NP_001269548.1:p.Phe184Leu
NM_001282620.2:c.552T>A NP_001269549.1:p.Phe184Leu
NM_001282617.2:c.444T>A NP_001269546.1:p.Phe148Leu