Canonical Allele Identifier: CA12719384
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs79594640
gnomAD v2: 8-25892006-A-T
gnomAD v3: 8-26034490-A-T
gnomAD v4: 8-26034490-A-T
MyVariant Identifiers: chr8:g.25892006A>T (hg19) chr8:g.26034490A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034490A>T , CM000670.2:g.26034490A>T GRCh38
NC_000008.10:g.25892006A>T , CM000670.1:g.25892006A>T GRCh37
NC_000008.9:g.25947923A>T NCBI36
NG_030344.1:g.15635T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1337T>A MANE Select ENSP00000430241.1:n.483-1337T>A
ENST00000408929.7:c.39-1337T>A ENSP00000386178.3:n.39-1337T>A
ENST00000517825.1:n.802-1337T>A
ENST00000520164.5:c.483-1337T>A ENSP00000430241.1:n.483-1337T>A
NM_022659.3:c.483-1337T>A NP_073150.2:n.483-1337T>A
NM_022659.4:c.483-1337T>A MANE Select NP_073150.2:n.483-1337T>A
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