Canonical Allele Identifier: CA174267128
Gene: ESCO2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27792650G>C , CM000670.2:g.27792650G>C GRCh38
NC_000008.10:g.27650167G>C , CM000670.1:g.27650167G>C GRCh37
NC_000008.9:g.27706086G>C NCBI36
NG_008117.1:g.23110G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.1354-18G>C MANE Select ENSP00000306999.8:n.1354-18G>C
ENST00000305188.12:c.1354-18G>C ENSP00000306999.8:n.1354-18G>C
ENST00000397418.4:c.298-18G>C ENSP00000380563.2:n.298-18G>C
ENST00000518262.5:c.467+598G>C
ENST00000522378.5:c.*329-18G>C ENSP00000428928.1:n.*329-18G>C
NM_001017420.2:c.1354-18G>C NP_001017420.1:n.1354-18G>C
XM_011544421.1:c.1354-18G>C XP_011542723.1:n.1354-18G>C
XM_011544422.1:c.1354-18G>C XP_011542724.1:n.1354-18G>C
XR_949378.1:n.1438-18G>C
XR_949379.1:n.1438-18G>C
XM_011544421.2:c.1354-18G>C XP_011542723.1:n.1354-18G>C
XM_011544422.2:c.1354-18G>C XP_011542724.1:n.1354-18G>C
XR_949378.3:n.1438-18G>C
NM_001017420.3:c.1354-18G>C MANE Select NP_001017420.1:n.1354-18G>C