Canonical Allele Identifier: CA4692163

Gene: ESCO2

Linked Data

• dbSNP Id: rs369338792
• ExAC: 8:27637799 G / T
• gnomAD v2: 8-27637799-G-T
• gnomAD v4: 8-27780282-G-T
• MyVariant Identifiers: chr8:g.27637799G>T (hg19) ; chr8:g.27780282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780282G>T , CM000670.2:g.27780282G>T	GRCh38
NC_000008.10:g.27637799G>T , CM000670.1:g.27637799G>T	GRCh37
NC_000008.9:g.27693718G>T	NCBI36
NG_008117.1:g.10742G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.955+15G>T MANE Select	ENSP00000306999.8:n.955+15G>T
ENST00000305188.12:c.955+15G>T	ENSP00000306999.8:n.955+15G>T
ENST00000518262.5:c.69+15G>T
ENST00000522378.5:c.861+3113G>T	ENSP00000428928.1:n.861+3113G>T
NM_001017420.2:c.955+15G>T	NP_001017420.1:n.955+15G>T
XM_011544421.1:c.955+15G>T	XP_011542723.1:n.955+15G>T
XM_011544422.1:c.955+15G>T	XP_011542724.1:n.955+15G>T
XR_949378.1:n.1039+15G>T
XR_949379.1:n.1039+15G>T
XM_011544421.2:c.955+15G>T	XP_011542723.1:n.955+15G>T
XM_011544422.2:c.955+15G>T	XP_011542724.1:n.955+15G>T
XR_949378.3:n.1039+15G>T
NM_001017420.3:c.955+15G>T MANE Select	NP_001017420.1:n.955+15G>T