Canonical Allele Identifier: CA10630900

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362760
• ClinVar RCV Id: RCV000402148
• dbSNP Id: rs539459940
• gnomAD v2: 8-27661127-G-C
• gnomAD v3: 8-27803610-G-C
• gnomAD v4: 8-27803610-G-C
• MyVariant Identifiers: chr8:g.27661127G>C (hg19) ; chr8:g.27803610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803610G>C , CM000670.2:g.27803610G>C	GRCh38
NC_000008.10:g.27661127G>C , CM000670.1:g.27661127G>C	GRCh37
NC_000008.9:g.27717046G>C	NCBI36
NG_008117.1:g.34070G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*172G>C MANE Select	ENSP00000306999.8:n.*172G>C
ENST00000305188.12:c.*172G>C	ENSP00000306999.8:n.*172G>C
ENST00000397418.4:c.685+237G>C	ENSP00000380563.2:n.685+237G>C
ENST00000522378.5:c.*716+237G>C	ENSP00000428928.1:n.*716+237G>C
NM_001017420.2:c.*172G>C	NP_001017420.1:n.*172G>C
XM_011544421.1:c.*172G>C	XP_011542723.1:n.*172G>C
XM_011544422.1:c.1741+237G>C	XP_011542724.1:n.1741+237G>C
XR_949378.1:n.1825+237G>C
XR_949379.1:n.1825+237G>C
XM_011544421.2:c.*172G>C	XP_011542723.1:n.*172G>C
XM_011544422.2:c.1741+237G>C	XP_011542724.1:n.1741+237G>C
XR_949378.3:n.1825+237G>C
NM_001017420.3:c.*172G>C MANE Select	NP_001017420.1:n.*172G>C