Canonical Allele Identifier: CA580866725
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs1468824878
gnomAD v2: 8-25891990-G-C
gnomAD v3: 8-26034474-G-C
gnomAD v4: 8-26034474-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034474G>C , CM000670.2:g.26034474G>C GRCh38
NC_000008.10:g.25891990G>C , CM000670.1:g.25891990G>C GRCh37
NC_000008.9:g.25947907G>C NCBI36
NG_030344.1:g.15651C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000520164.6:c.483-1321C>G MANE Select ENSP00000430241.1:n.483-1321C>G
ENST00000408929.7:c.39-1321C>G ENSP00000386178.3:n.39-1321C>G
ENST00000517825.1:n.802-1321C>G
ENST00000520164.5:c.483-1321C>G ENSP00000430241.1:n.483-1321C>G
NM_022659.3:c.483-1321C>G NP_073150.2:n.483-1321C>G
NM_022659.4:c.483-1321C>G MANE Select NP_073150.2:n.483-1321C>G