Canonical Allele Identifier: CA352896372
Community Standard Title: NM_002070.4(GNAI2):c.598T>C (p.Phe200Leu)
Gene: GNAI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50256727T>C , CM000665.2:g.50256727T>C GRCh38
NC_000003.11:g.50294159T>C , CM000665.1:g.50294159T>C GRCh37
NC_000003.10:g.50269163T>C NCBI36
NG_016002.2:g.35040T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002070.4:c.598T>C MANE Select NP_002061.1:p.Phe200Leu
ENST00000313601.11:c.598T>C MANE Select ENSP00000312999.6:p.Phe200Leu
NM_001166425.1:c.487T>C NP_001159897.1:p.Phe163Leu
NM_001166425.2:c.487T>C NP_001159897.1:p.Phe163Leu
NM_001282617.1:c.442T>C NP_001269546.1:p.Phe148Leu
NM_001282617.2:c.442T>C NP_001269546.1:p.Phe148Leu
NM_001282618.1:c.355T>C NP_001269547.1:p.Phe119Leu
NM_001282618.2:c.355T>C NP_001269547.1:p.Phe119Leu
NM_001282619.1:c.550T>C NP_001269548.1:p.Phe184Leu
NM_001282619.2:c.550T>C NP_001269548.1:p.Phe184Leu
NM_001282620.1:c.550T>C NP_001269549.1:p.Phe184Leu
NM_001282620.2:c.550T>C NP_001269549.1:p.Phe184Leu
NM_002070.3:c.598T>C NP_002061.1:p.Phe200Leu
ENST00000266027.9:c.442T>C ENSP00000266027.6:p.Phe148Leu
ENST00000313601.10:c.598T>C ENSP00000312999.6:p.Phe200Leu
ENST00000422163.5:c.550T>C ENSP00000406871.1:p.Phe184Leu
ENST00000440628.5:c.442T>C ENSP00000395736.1:p.Phe148Leu
ENST00000441156.5:c.*126T>C ENSP00000394321.1:n.*126T>C
ENST00000446079.5:c.*233T>C ENSP00000406065.1:n.*233T>C
ENST00000451956.1:c.487T>C ENSP00000406369.1:p.Phe163Leu
ENST00000490122.5:n.1425T>C
ENST00000491100.5:n.2414T>C
ENST00000492383.1:n.43T>C