Canonical Allele Identifier: CA174261023

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 1116867
• ClinVar RCV Id: RCV001445424
• dbSNP Id: rs1022789367
• gnomAD v3: 8-27787877-G-T
• gnomAD v4: 8-27787877-G-T
• MyVariant Identifiers: chr8:g.27645394G>T (hg19) ; chr8:g.27787877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787877G>T , CM000670.2:g.27787877G>T	GRCh38
NC_000008.10:g.27645394G>T , CM000670.1:g.27645394G>T	GRCh37
NC_000008.9:g.27701313G>T	NCBI36
NG_008117.1:g.18337G>T

Transcript Alleles

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