Canonical Allele Identifier: CA370818795
Community Standard Title: NM_001017420.3(ESCO2):c.604C>G (p.Gln202Glu)
Gene: ESCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27776912C>G , CM000670.2:g.27776912C>G GRCh38
NC_000008.10:g.27634429C>G , CM000670.1:g.27634429C>G GRCh37
NC_000008.9:g.27690348C>G NCBI36
NG_008117.1:g.7372C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001017420.3:c.604C>G MANE Select NP_001017420.1:p.Gln202Glu
ENST00000305188.13:c.604C>G MANE Select ENSP00000306999.8:p.Gln202Glu
NM_001017420.2:c.604C>G NP_001017420.1:p.Gln202Glu
ENST00000305188.12:c.604C>G ENSP00000306999.8:p.Gln202Glu
ENST00000522378.5:c.604C>G ENSP00000428928.1:p.Gln202Glu
ENST00000523910.1:n.403C>G
ENST00000524293.1:n.622C>G
XM_011544421.1:c.604C>G XP_011542723.1:p.Gln202Glu
XM_011544421.2:c.604C>G XP_011542723.1:p.Gln202Glu
XM_011544422.1:c.604C>G XP_011542724.1:p.Gln202Glu
XM_011544422.2:c.604C>G XP_011542724.1:p.Gln202Glu
XR_949378.1:n.688C>G
XR_949378.3:n.688C>G
XR_949379.1:n.688C>G