Canonical Allele Identifier: CA352895085

Gene: GNAI2

Linked Data

• gnomAD v4: 3-50256218-C-A
• MyVariant Identifiers: chr3:g.50293650C>A (hg19) ; chr3:g.50256218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256218C>A , CM000665.2:g.50256218C>A	GRCh38
NC_000003.11:g.50293650C>A , CM000665.1:g.50293650C>A	GRCh37
NC_000003.10:g.50268654C>A	NCBI36
NG_016002.2:g.34531C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.491C>A MANE Select	ENSP00000312999.6:p.Ala164Glu
ENST00000266027.9:c.335C>A	ENSP00000266027.6:p.Ala112Glu
ENST00000313601.10:c.491C>A	ENSP00000312999.6:p.Ala164Glu
ENST00000422163.5:c.443C>A	ENSP00000406871.1:p.Ala148Glu
ENST00000440628.5:c.335C>A	ENSP00000395736.1:p.Ala112Glu
ENST00000441156.5:c.*19C>A	ENSP00000394321.1:n.*19C>A
ENST00000446079.5:c.*126C>A	ENSP00000406065.1:n.*126C>A
ENST00000451956.1:c.380C>A	ENSP00000406369.1:p.Ala127Glu
ENST00000468422.1:n.58C>A
ENST00000490122.5:n.1318C>A
ENST00000491100.5:n.2307C>A
NM_001166425.1:c.380C>A	NP_001159897.1:p.Ala127Glu
NM_001282617.1:c.335C>A	NP_001269546.1:p.Ala112Glu
NM_001282618.1:c.248C>A	NP_001269547.1:p.Ala83Glu
NM_001282619.1:c.443C>A	NP_001269548.1:p.Ala148Glu
NM_001282620.1:c.443C>A	NP_001269549.1:p.Ala148Glu
NM_002070.3:c.491C>A	NP_002061.1:p.Ala164Glu
NM_002070.4:c.491C>A MANE Select	NP_002061.1:p.Ala164Glu
NM_001166425.2:c.380C>A	NP_001159897.1:p.Ala127Glu
NM_001282618.2:c.248C>A	NP_001269547.1:p.Ala83Glu
NM_001282619.2:c.443C>A	NP_001269548.1:p.Ala148Glu
NM_001282620.2:c.443C>A	NP_001269549.1:p.Ala148Glu
NM_001282617.2:c.335C>A	NP_001269546.1:p.Ala112Glu