Canonical Allele Identifier: CA352895115

Gene: GNAI2

Linked Data

• dbSNP Id: rs1700699721
• gnomAD v4: 3-50256222-G-T
• MyVariant Identifiers: chr3:g.50293654G>T (hg19) ; chr3:g.50256222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256222G>T , CM000665.2:g.50256222G>T	GRCh38
NC_000003.11:g.50293654G>T , CM000665.1:g.50293654G>T	GRCh37
NC_000003.10:g.50268658G>T	NCBI36
NG_016002.2:g.34535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.495G>T MANE Select	ENSP00000312999.6:p.Gln165His
ENST00000266027.9:c.339G>T	ENSP00000266027.6:p.Gln113His
ENST00000313601.10:c.495G>T	ENSP00000312999.6:p.Gln165His
ENST00000422163.5:c.447G>T	ENSP00000406871.1:p.Gln149His
ENST00000440628.5:c.339G>T	ENSP00000395736.1:p.Gln113His
ENST00000441156.5:c.*23G>T	ENSP00000394321.1:n.*23G>T
ENST00000446079.5:c.*130G>T	ENSP00000406065.1:n.*130G>T
ENST00000451956.1:c.384G>T	ENSP00000406369.1:p.Gln128His
ENST00000468422.1:n.62G>T
ENST00000490122.5:n.1322G>T
ENST00000491100.5:n.2311G>T
NM_001166425.1:c.384G>T	NP_001159897.1:p.Gln128His
NM_001282617.1:c.339G>T	NP_001269546.1:p.Gln113His
NM_001282618.1:c.252G>T	NP_001269547.1:p.Gln84His
NM_001282619.1:c.447G>T	NP_001269548.1:p.Gln149His
NM_001282620.1:c.447G>T	NP_001269549.1:p.Gln149His
NM_002070.3:c.495G>T	NP_002061.1:p.Gln165His
NM_002070.4:c.495G>T MANE Select	NP_002061.1:p.Gln165His
NM_001166425.2:c.384G>T	NP_001159897.1:p.Gln128His
NM_001282618.2:c.252G>T	NP_001269547.1:p.Gln84His
NM_001282619.2:c.447G>T	NP_001269548.1:p.Gln149His
NM_001282620.2:c.447G>T	NP_001269549.1:p.Gln149His
NM_001282617.2:c.339G>T	NP_001269546.1:p.Gln113His