Canonical Allele Identifier: CA174555435
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs149015554
gnomAD v2: 8-25892218-G-A
gnomAD v3: 8-26034702-G-A
gnomAD v4: 8-26034702-G-A
MyVariant Identifiers: chr8:g.25892218G>A (hg19) chr8:g.26034702G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034702G>A , CM000670.2:g.26034702G>A GRCh38
NC_000008.10:g.25892218G>A , CM000670.1:g.25892218G>A GRCh37
NC_000008.9:g.25948135G>A NCBI36
NG_030344.1:g.15423C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000520164.6:c.483-1549C>T MANE Select ENSP00000430241.1:n.483-1549C>T
ENST00000408929.7:c.39-1549C>T ENSP00000386178.3:n.39-1549C>T
ENST00000517825.1:n.802-1549C>T
ENST00000520164.5:c.483-1549C>T ENSP00000430241.1:n.483-1549C>T
NM_022659.3:c.483-1549C>T NP_073150.2:n.483-1549C>T
NM_022659.4:c.483-1549C>T MANE Select NP_073150.2:n.483-1549C>T
Search 100 bp 5'
Search 100 bp 3'