Canonical Allele Identifier: CA352894887

Gene: GNAI2

Linked Data

• dbSNP Id: rs1575456266
• gnomAD v4: 3-50256206-T-C
• MyVariant Identifiers: chr3:g.50293638T>C (hg19) ; chr3:g.50256206T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50256206T>C , CM000665.2:g.50256206T>C	GRCh38
NC_000003.11:g.50293638T>C , CM000665.1:g.50293638T>C	GRCh37
NC_000003.10:g.50268642T>C	NCBI36
NG_016002.2:g.34519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313601.11:c.479T>C MANE Select	ENSP00000312999.6:p.Leu160Pro
ENST00000266027.9:c.323T>C	ENSP00000266027.6:p.Leu108Pro
ENST00000313601.10:c.479T>C	ENSP00000312999.6:p.Leu160Pro
ENST00000422163.5:c.431T>C	ENSP00000406871.1:p.Leu144Pro
ENST00000440628.5:c.323T>C	ENSP00000395736.1:p.Leu108Pro
ENST00000441156.5:c.*7T>C	ENSP00000394321.1:n.*7T>C
ENST00000446079.5:c.*114T>C	ENSP00000406065.1:n.*114T>C
ENST00000451956.1:c.368T>C	ENSP00000406369.1:p.Leu123Pro
ENST00000468422.1:n.46T>C
ENST00000490122.5:n.1306T>C
ENST00000491100.5:n.2295T>C
NM_001166425.1:c.368T>C	NP_001159897.1:p.Leu123Pro
NM_001282617.1:c.323T>C	NP_001269546.1:p.Leu108Pro
NM_001282618.1:c.236T>C	NP_001269547.1:p.Leu79Pro
NM_001282619.1:c.431T>C	NP_001269548.1:p.Leu144Pro
NM_001282620.1:c.431T>C	NP_001269549.1:p.Leu144Pro
NM_002070.3:c.479T>C	NP_002061.1:p.Leu160Pro
NM_002070.4:c.479T>C MANE Select	NP_002061.1:p.Leu160Pro
NM_001166425.2:c.368T>C	NP_001159897.1:p.Leu123Pro
NM_001282618.2:c.236T>C	NP_001269547.1:p.Leu79Pro
NM_001282619.2:c.431T>C	NP_001269548.1:p.Leu144Pro
NM_001282620.2:c.431T>C	NP_001269549.1:p.Leu144Pro
NM_001282617.2:c.323T>C	NP_001269546.1:p.Leu108Pro