Canonical Allele Identifier: CA341783
Gene: ESCO2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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