Canonical Allele Identifier: CA10252752

Gene: EP300

Linked Data

• dbSNP Id: rs781506517
• ExAC: 22:41543794 C / G
• gnomAD v2: 22-41543794-C-G
• gnomAD v4: 22-41147790-C-G
• MyVariant Identifiers: chr22:g.41543794C>G (hg19) ; chr22:g.41147790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147790C>G , CM000684.2:g.41147790C>G	GRCh38
NC_000022.10:g.41543794C>G , CM000684.1:g.41543794C>G	GRCh37
NC_000022.9:g.39873740C>G	NCBI36
NG_009817.1:g.60181C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*52-47C>G	ENSP00000515365.1:n.*52-47C>G
ENST00000703545.1:c.1922-47C>G
ENST00000263253.9:c.2132-47C>G MANE Select	ENSP00000263253.7:n.2132-47C>G
ENST00000674155.1:c.2054-47C>G	ENSP00000501078.1:n.2054-47C>G
ENST00000263253.8:c.2132-47C>G	ENSP00000263253.7:n.2132-47C>G
ENST00000634728.1:c.176-47C>G	ENSP00000488981.1:n.176-47C>G
ENST00000635538.1:n.265-47C>G
NM_001429.3:c.2132-47C>G	NP_001420.2:n.2132-47C>G
XM_006724165.2:c.2054-47C>G	XP_006724228.1:n.2054-47C>G
NM_001362843.1:c.2054-47C>G	NP_001349772.1:n.2054-47C>G
NM_001429.4:c.2132-47C>G MANE Select	NP_001420.2:n.2132-47C>G
NM_001362843.2:c.2054-47C>G	NP_001349772.1:n.2054-47C>G