Canonical Allele Identifier: CA352895249

Gene: GNAI2

Linked Data

• gnomAD v4: 3-50256232-A-T
• MyVariant Identifiers: chr3:g.50293664A>T (hg19) ; chr3:g.50256232A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256232A>T , CM000665.2:g.50256232A>T	GRCh38
NC_000003.11:g.50293664A>T , CM000665.1:g.50293664A>T	GRCh37
NC_000003.10:g.50268668A>T	NCBI36
NG_016002.2:g.34545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.505A>T MANE Select	ENSP00000312999.6:p.Ile169Phe
ENST00000266027.9:c.349A>T	ENSP00000266027.6:p.Ile117Phe
ENST00000313601.10:c.505A>T	ENSP00000312999.6:p.Ile169Phe
ENST00000422163.5:c.457A>T	ENSP00000406871.1:p.Ile153Phe
ENST00000440628.5:c.349A>T	ENSP00000395736.1:p.Ile117Phe
ENST00000441156.5:c.*33A>T	ENSP00000394321.1:n.*33A>T
ENST00000446079.5:c.*140A>T	ENSP00000406065.1:n.*140A>T
ENST00000451956.1:c.394A>T	ENSP00000406369.1:p.Ile132Phe
ENST00000468422.1:n.72A>T
ENST00000490122.5:n.1332A>T
ENST00000491100.5:n.2321A>T
NM_001166425.1:c.394A>T	NP_001159897.1:p.Ile132Phe
NM_001282617.1:c.349A>T	NP_001269546.1:p.Ile117Phe
NM_001282618.1:c.262A>T	NP_001269547.1:p.Ile88Phe
NM_001282619.1:c.457A>T	NP_001269548.1:p.Ile153Phe
NM_001282620.1:c.457A>T	NP_001269549.1:p.Ile153Phe
NM_002070.3:c.505A>T	NP_002061.1:p.Ile169Phe
NM_002070.4:c.505A>T MANE Select	NP_002061.1:p.Ile169Phe
NM_001166425.2:c.394A>T	NP_001159897.1:p.Ile132Phe
NM_001282618.2:c.262A>T	NP_001269547.1:p.Ile88Phe
NM_001282619.2:c.457A>T	NP_001269548.1:p.Ile153Phe
NM_001282620.2:c.457A>T	NP_001269549.1:p.Ile153Phe
NM_001282617.2:c.349A>T	NP_001269546.1:p.Ile117Phe