Canonical Allele Identifier: CA1112026767
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs1805465848
gnomAD v3: 8-26034590-G-A
gnomAD v4: 8-26034590-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034590G>A , CM000670.2:g.26034590G>A GRCh38
NC_000008.10:g.25892106G>A , CM000670.1:g.25892106G>A GRCh37
NC_000008.9:g.25948023G>A NCBI36
NG_030344.1:g.15535C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1437C>T MANE Select ENSP00000430241.1:n.483-1437C>T
ENST00000408929.7:c.39-1437C>T ENSP00000386178.3:n.39-1437C>T
ENST00000517825.1:n.802-1437C>T
ENST00000520164.5:c.483-1437C>T ENSP00000430241.1:n.483-1437C>T
NM_022659.3:c.483-1437C>T NP_073150.2:n.483-1437C>T
NM_022659.4:c.483-1437C>T MANE Select NP_073150.2:n.483-1437C>T