Canonical Allele Identifier: CA850261457
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs1166286341
gnomAD v3: 8-26034454-TG-T
gnomAD v4: 8-26034454-TG-T
MyVariant Identifiers: chr8:g.25891971del (hg19) chr8:g.26034455del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034458del , CM000670.2:g.26034458del GRCh38
NC_000008.10:g.25891974del , CM000670.1:g.25891974del GRCh37
NC_000008.9:g.25947891del NCBI36
NG_030344.1:g.15670del

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1302del MANE Select ENSP00000430241.1:n.483-1302del
ENST00000408929.7:c.39-1302del ENSP00000386178.3:n.39-1302del
ENST00000517825.1:n.802-1302del
ENST00000520164.5:c.483-1302del ENSP00000430241.1:n.483-1302del
NM_022659.3:c.483-1302del NP_073150.2:n.483-1302del
NM_022659.4:c.483-1302del MANE Select NP_073150.2:n.483-1302del
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