Canonical Allele Identifier: CA411684514

Gene: EP300

Linked Data

• dbSNP Id: rs2145524198
• MyVariant Identifiers: chr22:g.41574845C>G (hg19) ; chr22:g.41178841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41178841C>G , CM000684.2:g.41178841C>G	GRCh38
NC_000022.10:g.41574845C>G , CM000684.1:g.41574845C>G	GRCh37
NC_000022.9:g.39904791C>G	NCBI36
NG_009817.1:g.91232C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263253.9:c.7130C>G MANE Select	ENSP00000263253.7:p.Ala2377Gly
ENST00000674155.1:c.7052C>G	ENSP00000501078.1:p.Ala2351Gly
ENST00000263253.8:c.7130C>G	ENSP00000263253.7:p.Ala2377Gly
NM_001429.3:c.7130C>G	NP_001420.2:p.Ala2377Gly
XM_006724165.2:c.7052C>G	XP_006724228.1:p.Ala2351Gly
NM_001362843.1:c.7052C>G	NP_001349772.1:p.Ala2351Gly
NM_001429.4:c.7130C>G MANE Select	NP_001420.2:p.Ala2377Gly
NM_001362843.2:c.7052C>G	NP_001349772.1:p.Ala2351Gly