Canonical Allele Identifier: CA580866750

Gene: EBF2

Linked Data

• dbSNP Id: rs1182561600
• gnomAD v2: 8-25892208-A-G
• gnomAD v3: 8-26034692-A-G
• gnomAD v4: 8-26034692-A-G
• MyVariant Identifiers: chr8:g.25892208A>G (hg19) ; chr8:g.26034692A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.26034692A>G , CM000670.2:g.26034692A>G	GRCh38
NC_000008.10:g.25892208A>G , CM000670.1:g.25892208A>G	GRCh37
NC_000008.9:g.25948125A>G	NCBI36
NG_030344.1:g.15433T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520164.6:c.483-1539T>C MANE Select	ENSP00000430241.1:n.483-1539T>C
ENST00000408929.7:c.39-1539T>C	ENSP00000386178.3:n.39-1539T>C
ENST00000517825.1:n.802-1539T>C
ENST00000520164.5:c.483-1539T>C	ENSP00000430241.1:n.483-1539T>C
NM_022659.3:c.483-1539T>C	NP_073150.2:n.483-1539T>C
NM_022659.4:c.483-1539T>C MANE Select	NP_073150.2:n.483-1539T>C