Canonical Allele Identifier: CA2573142683

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 1650164
• ClinVar RCV Id: RCV002163376
• dbSNP Id: rs2128954800
• gnomAD v4: 8-27787874-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787874T>C , CM000670.2:g.27787874T>C	GRCh38
NC_000008.10:g.27645391T>C , CM000670.1:g.27645391T>C	GRCh37
NC_000008.9:g.27701310T>C	NCBI36
NG_008117.1:g.18334T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-11T>C MANE Select	ENSP00000306999.8:n.1014-11T>C
ENST00000305188.12:c.1014-11T>C	ENSP00000306999.8:n.1014-11T>C
ENST00000518262.5:c.128-11T>C
ENST00000522378.5:c.862-11T>C	ENSP00000428928.1:n.862-11T>C
NM_001017420.2:c.1014-11T>C	NP_001017420.1:n.1014-11T>C
XM_011544421.1:c.1014-11T>C	XP_011542723.1:n.1014-11T>C
XM_011544422.1:c.1014-11T>C	XP_011542724.1:n.1014-11T>C
XR_949378.1:n.1098-11T>C
XR_949379.1:n.1098-11T>C
XM_011544421.2:c.1014-11T>C	XP_011542723.1:n.1014-11T>C
XM_011544422.2:c.1014-11T>C	XP_011542724.1:n.1014-11T>C
XR_949378.3:n.1098-11T>C
NM_001017420.3:c.1014-11T>C MANE Select	NP_001017420.1:n.1014-11T>C