Canonical Allele Identifier: CA174555414
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs960496365
gnomAD v2: 8-25892040-G-A
gnomAD v3: 8-26034524-G-A
gnomAD v4: 8-26034524-G-A
MyVariant Identifiers: chr8:g.25892040G>A (hg19) chr8:g.26034524G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034524G>A , CM000670.2:g.26034524G>A GRCh38
NC_000008.10:g.25892040G>A , CM000670.1:g.25892040G>A GRCh37
NC_000008.9:g.25947957G>A NCBI36
NG_030344.1:g.15601C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000520164.6:c.483-1371C>T MANE Select ENSP00000430241.1:n.483-1371C>T
ENST00000408929.7:c.39-1371C>T ENSP00000386178.3:n.39-1371C>T
ENST00000517825.1:n.802-1371C>T
ENST00000520164.5:c.483-1371C>T ENSP00000430241.1:n.483-1371C>T
NM_022659.3:c.483-1371C>T NP_073150.2:n.483-1371C>T
NM_022659.4:c.483-1371C>T MANE Select NP_073150.2:n.483-1371C>T
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