Canonical Allele Identifier: CA10625323

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362770
• ClinVar RCV Id: RCV000331721
• dbSNP Id: rs886062872
• gnomAD v4: 8-27804420-T-C
• MyVariant Identifiers: chr8:g.27661937T>C (hg19) ; chr8:g.27804420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27804420T>C , CM000670.2:g.27804420T>C	GRCh38
NC_000008.10:g.27661937T>C , CM000670.1:g.27661937T>C	GRCh37
NC_000008.9:g.27717856T>C	NCBI36
NG_008117.1:g.34880T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*982T>C MANE Select	ENSP00000306999.8:n.*982T>C
ENST00000305188.12:c.*982T>C	ENSP00000306999.8:n.*982T>C
ENST00000397418.4:c.685+1047T>C	ENSP00000380563.2:n.685+1047T>C
ENST00000522378.5:c.*716+1047T>C	ENSP00000428928.1:n.*716+1047T>C
NM_001017420.2:c.*982T>C	NP_001017420.1:n.*982T>C
XM_011544421.1:c.*982T>C	XP_011542723.1:n.*982T>C
XM_011544422.1:c.1741+1047T>C	XP_011542724.1:n.1741+1047T>C
XR_949378.1:n.1825+1047T>C
XR_949379.1:n.1825+1047T>C
XM_011544421.2:c.*982T>C	XP_011542723.1:n.*982T>C
XM_011544422.2:c.1741+1047T>C	XP_011542724.1:n.1741+1047T>C
XR_949378.3:n.1825+1047T>C
NM_001017420.3:c.*982T>C MANE Select	NP_001017420.1:n.*982T>C