Canonical Allele Identifier: CA433694927

Gene: GNAI2

Linked Data

• MyVariant Identifiers: chr3:g.50293684G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256252G>C , CM000665.2:g.50256252G>C	GRCh38
NC_000003.11:g.50293684G>C , CM000665.1:g.50293684G>C	GRCh37
NC_000003.10:g.50268688G>C	NCBI36
NG_016002.2:g.34565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.525G>C MANE Select	ENSP00000312999.6:p.Val175=
ENST00000266027.9:c.369G>C	ENSP00000266027.6:p.Val123=
ENST00000313601.10:c.525G>C	ENSP00000312999.6:p.Val175=
ENST00000422163.5:c.477G>C	ENSP00000406871.1:p.Val159=
ENST00000440628.5:c.369G>C	ENSP00000395736.1:p.Val123=
ENST00000441156.5:c.*53G>C	ENSP00000394321.1:n.*53G>C
ENST00000446079.5:c.*160G>C	ENSP00000406065.1:n.*160G>C
ENST00000451956.1:c.414G>C	ENSP00000406369.1:p.Val138=
ENST00000468422.1:n.92G>C
ENST00000490122.5:n.1352G>C
ENST00000491100.5:n.2341G>C
NM_001166425.1:c.414G>C	NP_001159897.1:p.Val138=
NM_001282617.1:c.369G>C	NP_001269546.1:p.Val123=
NM_001282618.1:c.282G>C	NP_001269547.1:p.Val94=
NM_001282619.1:c.477G>C	NP_001269548.1:p.Val159=
NM_001282620.1:c.477G>C	NP_001269549.1:p.Val159=
NM_002070.3:c.525G>C	NP_002061.1:p.Val175=
NM_002070.4:c.525G>C MANE Select	NP_002061.1:p.Val175=
NM_001166425.2:c.414G>C	NP_001159897.1:p.Val138=
NM_001282618.2:c.282G>C	NP_001269547.1:p.Val94=
NM_001282619.2:c.477G>C	NP_001269548.1:p.Val159=
NM_001282620.2:c.477G>C	NP_001269549.1:p.Val159=
NM_001282617.2:c.369G>C	NP_001269546.1:p.Val123=