Canonical Allele Identifier: CA352894783

Gene: GNAI2

Linked Data

• dbSNP Id: rs1575456229
• gnomAD v3: 3-50256197-T-A
• gnomAD v4: 3-50256197-T-A
• MyVariant Identifiers: chr3:g.50293629T>A (hg19) ; chr3:g.50256197T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256197T>A , CM000665.2:g.50256197T>A	GRCh38
NC_000003.11:g.50293629T>A , CM000665.1:g.50293629T>A	GRCh37
NC_000003.10:g.50268633T>A	NCBI36
NG_016002.2:g.34510T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.470T>A MANE Select	ENSP00000312999.6:p.Leu157Gln
ENST00000266027.9:c.314T>A	ENSP00000266027.6:p.Leu105Gln
ENST00000313601.10:c.470T>A	ENSP00000312999.6:p.Leu157Gln
ENST00000422163.5:c.422T>A	ENSP00000406871.1:p.Leu141Gln
ENST00000440628.5:c.314T>A	ENSP00000395736.1:p.Leu105Gln
ENST00000441156.5:c.427T>A	ENSP00000394321.1:p.Ter143Arg
ENST00000446079.5:c.*105T>A	ENSP00000406065.1:n.*105T>A
ENST00000451956.1:c.359T>A	ENSP00000406369.1:p.Leu120Gln
ENST00000468422.1:n.37T>A
ENST00000490122.5:n.1297T>A
ENST00000491100.5:n.2286T>A
NM_001166425.1:c.359T>A	NP_001159897.1:p.Leu120Gln
NM_001282617.1:c.314T>A	NP_001269546.1:p.Leu105Gln
NM_001282618.1:c.227T>A	NP_001269547.1:p.Leu76Gln
NM_001282619.1:c.422T>A	NP_001269548.1:p.Leu141Gln
NM_001282620.1:c.422T>A	NP_001269549.1:p.Leu141Gln
NM_002070.3:c.470T>A	NP_002061.1:p.Leu157Gln
NM_002070.4:c.470T>A MANE Select	NP_002061.1:p.Leu157Gln
NM_001166425.2:c.359T>A	NP_001159897.1:p.Leu120Gln
NM_001282618.2:c.227T>A	NP_001269547.1:p.Leu76Gln
NM_001282619.2:c.422T>A	NP_001269548.1:p.Leu141Gln
NM_001282620.2:c.422T>A	NP_001269549.1:p.Leu141Gln
NM_001282617.2:c.314T>A	NP_001269546.1:p.Leu105Gln