Canonical Allele Identifier: CA352894838

Gene: GNAI2

Linked Data

• dbSNP Id: rs781807470
• gnomAD v4: 3-50256202-G-C
• MyVariant Identifiers: chr3:g.50293634G>C (hg19) ; chr3:g.50256202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256202G>C , CM000665.2:g.50256202G>C	GRCh38
NC_000003.11:g.50293634G>C , CM000665.1:g.50293634G>C	GRCh37
NC_000003.10:g.50268638G>C	NCBI36
NG_016002.2:g.34515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.475G>C MANE Select	ENSP00000312999.6:p.Asp159His
ENST00000266027.9:c.319G>C	ENSP00000266027.6:p.Asp107His
ENST00000313601.10:c.475G>C	ENSP00000312999.6:p.Asp159His
ENST00000422163.5:c.427G>C	ENSP00000406871.1:p.Asp143His
ENST00000440628.5:c.319G>C	ENSP00000395736.1:p.Asp107His
ENST00000441156.5:c.*3G>C	ENSP00000394321.1:n.*3G>C
ENST00000446079.5:c.*110G>C	ENSP00000406065.1:n.*110G>C
ENST00000451956.1:c.364G>C	ENSP00000406369.1:p.Asp122His
ENST00000468422.1:n.42G>C
ENST00000490122.5:n.1302G>C
ENST00000491100.5:n.2291G>C
NM_001166425.1:c.364G>C	NP_001159897.1:p.Asp122His
NM_001282617.1:c.319G>C	NP_001269546.1:p.Asp107His
NM_001282618.1:c.232G>C	NP_001269547.1:p.Asp78His
NM_001282619.1:c.427G>C	NP_001269548.1:p.Asp143His
NM_001282620.1:c.427G>C	NP_001269549.1:p.Asp143His
NM_002070.3:c.475G>C	NP_002061.1:p.Asp159His
NM_002070.4:c.475G>C MANE Select	NP_002061.1:p.Asp159His
NM_001166425.2:c.364G>C	NP_001159897.1:p.Asp122His
NM_001282618.2:c.232G>C	NP_001269547.1:p.Asp78His
NM_001282619.2:c.427G>C	NP_001269548.1:p.Asp143His
NM_001282620.2:c.427G>C	NP_001269549.1:p.Asp143His
NM_001282617.2:c.319G>C	NP_001269546.1:p.Asp107His