Canonical Allele Identifier: CA2686706225

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787868-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787868C>A , CM000670.2:g.27787868C>A	GRCh38
NC_000008.10:g.27645385C>A , CM000670.1:g.27645385C>A	GRCh37
NC_000008.9:g.27701304C>A	NCBI36
NG_008117.1:g.18328C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-17C>A MANE Select	ENSP00000306999.8:n.1014-17C>A
ENST00000305188.12:c.1014-17C>A	ENSP00000306999.8:n.1014-17C>A
ENST00000518262.5:c.128-17C>A
ENST00000522378.5:c.862-17C>A	ENSP00000428928.1:n.862-17C>A
NM_001017420.2:c.1014-17C>A	NP_001017420.1:n.1014-17C>A
XM_011544421.1:c.1014-17C>A	XP_011542723.1:n.1014-17C>A
XM_011544422.1:c.1014-17C>A	XP_011542724.1:n.1014-17C>A
XR_949378.1:n.1098-17C>A
XR_949379.1:n.1098-17C>A
XM_011544421.2:c.1014-17C>A	XP_011542723.1:n.1014-17C>A
XM_011544422.2:c.1014-17C>A	XP_011542724.1:n.1014-17C>A
XR_949378.3:n.1098-17C>A
NM_001017420.3:c.1014-17C>A MANE Select	NP_001017420.1:n.1014-17C>A