Canonical Allele Identifier: CA174261021

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2979853
• ClinVar RCV Id: RCV003834963
• dbSNP Id: rs1013279534
• MyVariant Identifiers: chr8:g.27645390T>A (hg19) ; chr8:g.27787873T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787873T>A , CM000670.2:g.27787873T>A	GRCh38
NC_000008.10:g.27645390T>A , CM000670.1:g.27645390T>A	GRCh37
NC_000008.9:g.27701309T>A	NCBI36
NG_008117.1:g.18333T>A

Transcript Alleles

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