Canonical Allele Identifier: CA352895043

Gene: GNAI2

Linked Data

• dbSNP Id: rs1553703152
• gnomAD v2: 3-50293649-G-A
• gnomAD v4: 3-50256217-G-A
• MyVariant Identifiers: chr3:g.50293649G>A (hg19) ; chr3:g.50256217G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256217G>A , CM000665.2:g.50256217G>A	GRCh38
NC_000003.11:g.50293649G>A , CM000665.1:g.50293649G>A	GRCh37
NC_000003.10:g.50268653G>A	NCBI36
NG_016002.2:g.34530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.490G>A MANE Select	ENSP00000312999.6:p.Ala164Thr
ENST00000266027.9:c.334G>A	ENSP00000266027.6:p.Ala112Thr
ENST00000313601.10:c.490G>A	ENSP00000312999.6:p.Ala164Thr
ENST00000422163.5:c.442G>A	ENSP00000406871.1:p.Ala148Thr
ENST00000440628.5:c.334G>A	ENSP00000395736.1:p.Ala112Thr
ENST00000441156.5:c.*18G>A	ENSP00000394321.1:n.*18G>A
ENST00000446079.5:c.*125G>A	ENSP00000406065.1:n.*125G>A
ENST00000451956.1:c.379G>A	ENSP00000406369.1:p.Ala127Thr
ENST00000468422.1:n.57G>A
ENST00000490122.5:n.1317G>A
ENST00000491100.5:n.2306G>A
NM_001166425.1:c.379G>A	NP_001159897.1:p.Ala127Thr
NM_001282617.1:c.334G>A	NP_001269546.1:p.Ala112Thr
NM_001282618.1:c.247G>A	NP_001269547.1:p.Ala83Thr
NM_001282619.1:c.442G>A	NP_001269548.1:p.Ala148Thr
NM_001282620.1:c.442G>A	NP_001269549.1:p.Ala148Thr
NM_002070.3:c.490G>A	NP_002061.1:p.Ala164Thr
NM_002070.4:c.490G>A MANE Select	NP_002061.1:p.Ala164Thr
NM_001166425.2:c.379G>A	NP_001159897.1:p.Ala127Thr
NM_001282618.2:c.247G>A	NP_001269547.1:p.Ala83Thr
NM_001282619.2:c.442G>A	NP_001269548.1:p.Ala148Thr
NM_001282620.2:c.442G>A	NP_001269549.1:p.Ala148Thr
NM_001282617.2:c.334G>A	NP_001269546.1:p.Ala112Thr