Canonical Allele Identifier: CA174555398
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs897034002
gnomAD v2: 8-25891956-T-A
gnomAD v3: 8-26034440-T-A
gnomAD v4: 8-26034440-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034440T>A , CM000670.2:g.26034440T>A GRCh38
NC_000008.10:g.25891956T>A , CM000670.1:g.25891956T>A GRCh37
NC_000008.9:g.25947873T>A NCBI36
NG_030344.1:g.15685A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1287A>T MANE Select ENSP00000430241.1:n.483-1287A>T
ENST00000408929.7:c.39-1287A>T ENSP00000386178.3:n.39-1287A>T
ENST00000517825.1:n.802-1287A>T
ENST00000520164.5:c.483-1287A>T ENSP00000430241.1:n.483-1287A>T
NM_022659.3:c.483-1287A>T NP_073150.2:n.483-1287A>T
NM_022659.4:c.483-1287A>T MANE Select NP_073150.2:n.483-1287A>T