Canonical Allele Identifier: CA1111718520
Gene: GFRA2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.21715583T>A , CM000670.2:g.21715583T>A GRCh38
NC_000008.10:g.21573095T>A , CM000670.1:g.21573095T>A GRCh37
NC_000008.9:g.21617375T>A NCBI36
NG_029215.1:g.78252A>T
NG_029215.2:g.78252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524240.6:c.795-9542A>T MANE Select ENSP00000428518.1:n.795-9542A>T
ENST00000306793.4:c.*849-9542A>T ENSP00000306654.4:n.*849-9542A>T
ENST00000517328.5:c.795-9542A>T ENSP00000429445.1:n.795-9542A>T
ENST00000517892.5:c.480-9542A>T ENSP00000429979.1:n.480-9542A>T
ENST00000518077.5:c.396-9542A>T ENSP00000429206.1:n.396-9542A>T
ENST00000524240.5:c.795-9542A>T ENSP00000428518.1:n.795-9542A>T
NM_001165038.1:c.480-9542A>T NP_001158510.1:n.480-9542A>T
NM_001165039.1:c.396-9542A>T NP_001158511.1:n.396-9542A>T
NM_001495.4:c.795-9542A>T NP_001486.4:n.795-9542A>T
XM_005273475.2:c.438-9542A>T XP_005273532.1:n.438-9542A>T
XM_006716327.2:c.795-9542A>T XP_006716390.1:n.795-9542A>T
XM_011544484.1:c.795-9542A>T XP_011542786.1:n.795-9542A>T
XM_011544485.1:c.480-9542A>T XP_011542787.1:n.480-9542A>T
XM_006716327.3:c.795-9542A>T XP_006716390.1:n.795-9542A>T
XM_011544484.2:c.795-9542A>T XP_011542786.1:n.795-9542A>T
XM_024447127.1:c.582-9542A>T XP_024302895.1:n.582-9542A>T
NM_001495.5:c.795-9542A>T MANE Select NP_001486.4:n.795-9542A>T
NM_001165038.2:c.480-9542A>T NP_001158510.1:n.480-9542A>T
NM_001165039.2:c.396-9542A>T NP_001158511.1:n.396-9542A>T