Canonical Allele Identifier: CA174555413
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs957096484
gnomAD v3: 8-26034503-G-A
gnomAD v4: 8-26034503-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034503G>A , CM000670.2:g.26034503G>A GRCh38
NC_000008.10:g.25892019G>A , CM000670.1:g.25892019G>A GRCh37
NC_000008.9:g.25947936G>A NCBI36
NG_030344.1:g.15622C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1350C>T MANE Select ENSP00000430241.1:n.483-1350C>T
ENST00000408929.7:c.39-1350C>T ENSP00000386178.3:n.39-1350C>T
ENST00000517825.1:n.802-1350C>T
ENST00000520164.5:c.483-1350C>T ENSP00000430241.1:n.483-1350C>T
NM_022659.3:c.483-1350C>T NP_073150.2:n.483-1350C>T
NM_022659.4:c.483-1350C>T MANE Select NP_073150.2:n.483-1350C>T