Canonical Allele Identifier: CA10625292

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362726
• ClinVar RCV Id: RCV000276673
• dbSNP Id: rs111510470
• gnomAD v2: 8-27632073-T-G
• gnomAD v3: 8-27774556-T-G
• gnomAD v4: 8-27774556-T-G
• MyVariant Identifiers: chr8:g.27632073T>G (hg19) ; chr8:g.27774556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27774556T>G , CM000670.2:g.27774556T>G	GRCh38
NC_000008.10:g.27632073T>G , CM000670.1:g.27632073T>G	GRCh37
NC_000008.9:g.27687992T>G	NCBI36
NG_008117.1:g.5016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.-68T>G MANE Select	ENSP00000306999.8:n.-68T>G
ENST00000305188.12:c.-68T>G	ENSP00000306999.8:n.-68T>G
ENST00000522378.5:c.-68T>G	ENSP00000428928.1:n.-68T>G
ENST00000523566.5:c.-16-943T>G	ENSP00000428435.1:n.-16-943T>G
NM_001017420.2:c.-68T>G	NP_001017420.1:n.-68T>G
XM_011544421.1:c.-16-943T>G	XP_011542723.1:n.-16-943T>G
XM_011544422.1:c.-68T>G	XP_011542724.1:n.-68T>G
XR_949378.1:n.17T>G
XR_949379.1:n.17T>G
XM_011544421.2:c.-16-943T>G	XP_011542723.1:n.-16-943T>G
XM_011544422.2:c.-68T>G	XP_011542724.1:n.-68T>G
XR_949378.3:n.17T>G
NM_001017420.3:c.-68T>G MANE Select	NP_001017420.1:n.-68T>G