Canonical Allele Identifier: CA352895625

Gene: GNAI2

Linked Data

• ClinVar Variation Id: 1803978
• ClinVar RCV Id: RCV002468716
• MyVariant Identifiers: chr3:g.50293703A>C (hg19) ; chr3:g.50256271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256271A>C , CM000665.2:g.50256271A>C	GRCh38
NC_000003.11:g.50293703A>C , CM000665.1:g.50293703A>C	GRCh37
NC_000003.10:g.50268707A>C	NCBI36
NG_016002.2:g.34584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.544A>C MANE Select	ENSP00000312999.6:p.Thr182Pro
ENST00000266027.9:c.388A>C	ENSP00000266027.6:p.Thr130Pro
ENST00000313601.10:c.544A>C	ENSP00000312999.6:p.Thr182Pro
ENST00000422163.5:c.496A>C	ENSP00000406871.1:p.Thr166Pro
ENST00000440628.5:c.388A>C	ENSP00000395736.1:p.Thr130Pro
ENST00000441156.5:c.*72A>C	ENSP00000394321.1:n.*72A>C
ENST00000446079.5:c.*179A>C	ENSP00000406065.1:n.*179A>C
ENST00000451956.1:c.433A>C	ENSP00000406369.1:p.Thr145Pro
ENST00000468422.1:n.111A>C
ENST00000490122.5:n.1371A>C
ENST00000491100.5:n.2360A>C
NM_001166425.1:c.433A>C	NP_001159897.1:p.Thr145Pro
NM_001282617.1:c.388A>C	NP_001269546.1:p.Thr130Pro
NM_001282618.1:c.301A>C	NP_001269547.1:p.Thr101Pro
NM_001282619.1:c.496A>C	NP_001269548.1:p.Thr166Pro
NM_001282620.1:c.496A>C	NP_001269549.1:p.Thr166Pro
NM_002070.3:c.544A>C	NP_002061.1:p.Thr182Pro
NM_002070.4:c.544A>C MANE Select	NP_002061.1:p.Thr182Pro
NM_001166425.2:c.433A>C	NP_001159897.1:p.Thr145Pro
NM_001282618.2:c.301A>C	NP_001269547.1:p.Thr101Pro
NM_001282619.2:c.496A>C	NP_001269548.1:p.Thr166Pro
NM_001282620.2:c.496A>C	NP_001269549.1:p.Thr166Pro
NM_001282617.2:c.388A>C	NP_001269546.1:p.Thr130Pro