Canonical Allele Identifier: CA850261562
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs1470137961
gnomAD v3: 8-26034712-T-C
gnomAD v4: 8-26034712-T-C
MyVariant Identifiers: chr8:g.25892228T>C (hg19) chr8:g.26034712T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034712T>C , CM000670.2:g.26034712T>C GRCh38
NC_000008.10:g.25892228T>C , CM000670.1:g.25892228T>C GRCh37
NC_000008.9:g.25948145T>C NCBI36
NG_030344.1:g.15413A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1559A>G MANE Select ENSP00000430241.1:n.483-1559A>G
ENST00000408929.7:c.39-1559A>G ENSP00000386178.3:n.39-1559A>G
ENST00000517825.1:n.802-1559A>G
ENST00000520164.5:c.483-1559A>G ENSP00000430241.1:n.483-1559A>G
NM_022659.3:c.483-1559A>G NP_073150.2:n.483-1559A>G
NM_022659.4:c.483-1559A>G MANE Select NP_073150.2:n.483-1559A>G
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