Canonical Allele Identifier: CA271504
Community Standard Title: NM_001017420.3(ESCO2):c.648A>G (p.Lys216=)
Gene: ESCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27776956A>G , CM000670.2:g.27776956A>G GRCh38
NC_000008.10:g.27634473A>G , CM000670.1:g.27634473A>G GRCh37
NC_000008.9:g.27690392A>G NCBI36
NG_008117.1:g.7416A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001017420.3:c.648A>G MANE Select NP_001017420.1:p.Lys216=
ENST00000305188.13:c.648A>G MANE Select ENSP00000306999.8:p.Lys216=
NM_001017420.2:c.648A>G NP_001017420.1:p.Lys216=
ENST00000305188.12:c.648A>G ENSP00000306999.8:p.Lys216=
ENST00000522378.5:c.648A>G ENSP00000428928.1:p.Lys216=
ENST00000523910.1:n.447A>G
ENST00000524293.1:n.666A>G
XM_011544421.1:c.648A>G XP_011542723.1:p.Lys216=
XM_011544421.2:c.648A>G XP_011542723.1:p.Lys216=
XM_011544422.1:c.648A>G XP_011542724.1:p.Lys216=
XM_011544422.2:c.648A>G XP_011542724.1:p.Lys216=
XR_949378.1:n.732A>G
XR_949378.3:n.732A>G
XR_949379.1:n.732A>G