Canonical Allele Identifier: CA352895020

Gene: GNAI2

Linked Data

• gnomAD v4: 3-50256214-A-C
• MyVariant Identifiers: chr3:g.50293646A>C (hg19) ; chr3:g.50256214A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256214A>C , CM000665.2:g.50256214A>C	GRCh38
NC_000003.11:g.50293646A>C , CM000665.1:g.50293646A>C	GRCh37
NC_000003.10:g.50268650A>C	NCBI36
NG_016002.2:g.34527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.487A>C MANE Select	ENSP00000312999.6:p.Ile163Leu
ENST00000266027.9:c.331A>C	ENSP00000266027.6:p.Ile111Leu
ENST00000313601.10:c.487A>C	ENSP00000312999.6:p.Ile163Leu
ENST00000422163.5:c.439A>C	ENSP00000406871.1:p.Ile147Leu
ENST00000440628.5:c.331A>C	ENSP00000395736.1:p.Ile111Leu
ENST00000441156.5:c.*15A>C	ENSP00000394321.1:n.*15A>C
ENST00000446079.5:c.*122A>C	ENSP00000406065.1:n.*122A>C
ENST00000451956.1:c.376A>C	ENSP00000406369.1:p.Ile126Leu
ENST00000468422.1:n.54A>C
ENST00000490122.5:n.1314A>C
ENST00000491100.5:n.2303A>C
NM_001166425.1:c.376A>C	NP_001159897.1:p.Ile126Leu
NM_001282617.1:c.331A>C	NP_001269546.1:p.Ile111Leu
NM_001282618.1:c.244A>C	NP_001269547.1:p.Ile82Leu
NM_001282619.1:c.439A>C	NP_001269548.1:p.Ile147Leu
NM_001282620.1:c.439A>C	NP_001269549.1:p.Ile147Leu
NM_002070.3:c.487A>C	NP_002061.1:p.Ile163Leu
NM_002070.4:c.487A>C MANE Select	NP_002061.1:p.Ile163Leu
NM_001166425.2:c.376A>C	NP_001159897.1:p.Ile126Leu
NM_001282618.2:c.244A>C	NP_001269547.1:p.Ile82Leu
NM_001282619.2:c.439A>C	NP_001269548.1:p.Ile147Leu
NM_001282620.2:c.439A>C	NP_001269549.1:p.Ile147Leu
NM_001282617.2:c.331A>C	NP_001269546.1:p.Ile111Leu