Canonical Allele Identifier: CA204399
Gene: GFRA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208201
ClinVar RCV Id: RCV000190397
dbSNP Id: rs796065050
gnomAD v2: 8-21608169-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.21750657G>A , CM000670.2:g.21750657G>A GRCh38
NC_000008.10:g.21608169G>A , CM000670.1:g.21608169G>A GRCh37
NC_000008.9:g.21652449G>A NCBI36
NG_029215.1:g.43178C>T
NG_029215.2:g.43178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524240.6:c.725C>T MANE Select ENSP00000428518.1:p.Ser242Phe
ENST00000306793.4:c.*779C>T ENSP00000306654.4:n.*779C>T
ENST00000517328.5:c.725C>T ENSP00000429445.1:p.Ser242Phe
ENST00000517892.5:c.410C>T ENSP00000429979.1:p.Ser137Phe
ENST00000518077.5:c.326C>T ENSP00000429206.1:p.Ser109Phe
ENST00000522071.2:c.725C>T ENSP00000428721.1:p.Ser242Phe
ENST00000524240.5:c.725C>T ENSP00000428518.1:p.Ser242Phe
NM_001165038.1:c.410C>T NP_001158510.1:p.Ser137Phe
NM_001165039.1:c.326C>T NP_001158511.1:p.Ser109Phe
NM_001495.4:c.725C>T NP_001486.4:p.Ser242Phe
XM_005273475.2:c.368C>T XP_005273532.1:p.Ser123Phe
XM_006716327.2:c.725C>T XP_006716390.1:p.Ser242Phe
XM_011544484.1:c.725C>T XP_011542786.1:p.Ser242Phe
XM_011544485.1:c.410C>T XP_011542787.1:p.Ser137Phe
XM_006716327.3:c.725C>T XP_006716390.1:p.Ser242Phe
XM_011544484.2:c.725C>T XP_011542786.1:p.Ser242Phe
XM_024447127.1:c.512C>T XP_024302895.1:p.Ser171Phe
NM_001495.5:c.725C>T MANE Select NP_001486.4:p.Ser242Phe
NM_001165038.2:c.410C>T NP_001158510.1:p.Ser137Phe
NM_001165039.2:c.326C>T NP_001158511.1:p.Ser109Phe