Canonical Allele Identifier: CA2413482

Gene: GNAI2

Linked Data

• dbSNP Id: rs782599019
• ExAC: 3:50293689 G / A
• gnomAD v2: 3-50293689-G-A
• gnomAD v4: 3-50256257-G-A
• COSMIC: COSM1617793 ; COSM3660625
• MyVariant Identifiers: chr3:g.50293689G>A (hg19) ; chr3:g.50256257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256257G>A , CM000665.2:g.50256257G>A	GRCh38
NC_000003.11:g.50293689G>A , CM000665.1:g.50293689G>A	GRCh37
NC_000003.10:g.50268693G>A	NCBI36
NG_016002.2:g.34570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.530G>A MANE Select	ENSP00000312999.6:p.Arg177Gln
ENST00000266027.9:c.374G>A	ENSP00000266027.6:p.Arg125Gln
ENST00000313601.10:c.530G>A	ENSP00000312999.6:p.Arg177Gln
ENST00000422163.5:c.482G>A	ENSP00000406871.1:p.Arg161Gln
ENST00000440628.5:c.374G>A	ENSP00000395736.1:p.Arg125Gln
ENST00000441156.5:c.*58G>A	ENSP00000394321.1:n.*58G>A
ENST00000446079.5:c.*165G>A	ENSP00000406065.1:n.*165G>A
ENST00000451956.1:c.419G>A	ENSP00000406369.1:p.Arg140Gln
ENST00000468422.1:n.97G>A
ENST00000490122.5:n.1357G>A
ENST00000491100.5:n.2346G>A
NM_001166425.1:c.419G>A	NP_001159897.1:p.Arg140Gln
NM_001282617.1:c.374G>A	NP_001269546.1:p.Arg125Gln
NM_001282618.1:c.287G>A	NP_001269547.1:p.Arg96Gln
NM_001282619.1:c.482G>A	NP_001269548.1:p.Arg161Gln
NM_001282620.1:c.482G>A	NP_001269549.1:p.Arg161Gln
NM_002070.3:c.530G>A	NP_002061.1:p.Arg177Gln
NM_002070.4:c.530G>A MANE Select	NP_002061.1:p.Arg177Gln
NM_001166425.2:c.419G>A	NP_001159897.1:p.Arg140Gln
NM_001282618.2:c.287G>A	NP_001269547.1:p.Arg96Gln
NM_001282619.2:c.482G>A	NP_001269548.1:p.Arg161Gln
NM_001282620.2:c.482G>A	NP_001269549.1:p.Arg161Gln
NM_001282617.2:c.374G>A	NP_001269546.1:p.Arg125Gln