Canonical Allele Identifier: CA433694712
Gene: GNAI2 HGNC NCBI

Linked Data

gnomAD v4: 3-50256216-T-C
MyVariant Identifiers: chr3:g.50293648T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50256216T>C , CM000665.2:g.50256216T>C GRCh38
NC_000003.11:g.50293648T>C , CM000665.1:g.50293648T>C GRCh37
NC_000003.10:g.50268652T>C NCBI36
NG_016002.2:g.34529T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313601.11:c.489T>C MANE Select ENSP00000312999.6:p.Ile163=
ENST00000266027.9:c.333T>C ENSP00000266027.6:p.Ile111=
ENST00000313601.10:c.489T>C ENSP00000312999.6:p.Ile163=
ENST00000422163.5:c.441T>C ENSP00000406871.1:p.Ile147=
ENST00000440628.5:c.333T>C ENSP00000395736.1:p.Ile111=
ENST00000441156.5:c.*17T>C ENSP00000394321.1:n.*17T>C
ENST00000446079.5:c.*124T>C ENSP00000406065.1:n.*124T>C
ENST00000451956.1:c.378T>C ENSP00000406369.1:p.Ile126=
ENST00000468422.1:n.56T>C
ENST00000490122.5:n.1316T>C
ENST00000491100.5:n.2305T>C
NM_001166425.1:c.378T>C NP_001159897.1:p.Ile126=
NM_001282617.1:c.333T>C NP_001269546.1:p.Ile111=
NM_001282618.1:c.246T>C NP_001269547.1:p.Ile82=
NM_001282619.1:c.441T>C NP_001269548.1:p.Ile147=
NM_001282620.1:c.441T>C NP_001269549.1:p.Ile147=
NM_002070.3:c.489T>C NP_002061.1:p.Ile163=
NM_002070.4:c.489T>C MANE Select NP_002061.1:p.Ile163=
NM_001166425.2:c.378T>C NP_001159897.1:p.Ile126=
NM_001282618.2:c.246T>C NP_001269547.1:p.Ile82=
NM_001282619.2:c.441T>C NP_001269548.1:p.Ile147=
NM_001282620.2:c.441T>C NP_001269549.1:p.Ile147=
NM_001282617.2:c.333T>C NP_001269546.1:p.Ile111=