Canonical Allele Identifier: CA580866752
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs1166706230
gnomAD v2: 8-25892234-T-G
gnomAD v3: 8-26034718-T-G
gnomAD v4: 8-26034718-T-G
MyVariant Identifiers: chr8:g.25892234T>G (hg19) chr8:g.26034718T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034718T>G , CM000670.2:g.26034718T>G GRCh38
NC_000008.10:g.25892234T>G , CM000670.1:g.25892234T>G GRCh37
NC_000008.9:g.25948151T>G NCBI36
NG_030344.1:g.15407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1565A>C MANE Select ENSP00000430241.1:n.483-1565A>C
ENST00000408929.7:c.39-1565A>C ENSP00000386178.3:n.39-1565A>C
ENST00000517825.1:n.802-1565A>C
ENST00000520164.5:c.483-1565A>C ENSP00000430241.1:n.483-1565A>C
NM_022659.3:c.483-1565A>C NP_073150.2:n.483-1565A>C
NM_022659.4:c.483-1565A>C MANE Select NP_073150.2:n.483-1565A>C
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