Canonical Allele Identifier: CA3156088183
Community Standard Title: NM_001017420.3(ESCO2):c.1597T= (p.Cys533=)
Gene: ESCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27799640T= , CM000670.2:g.27799640T= GRCh38
NC_000008.10:g.27657157T= , CM000670.1:g.27657157T= GRCh37
NC_000008.9:g.27713076T= NCBI36
NG_008117.1:g.30100T=

Transcript Alleles

HGVS Amino-acid Change
NM_001017420.3:c.1597T= MANE Select NP_001017420.1:p.Cys533=
ENST00000305188.13:c.1597T= MANE Select ENSP00000306999.8:p.Cys533=
NM_001017420.2:c.1597T= NP_001017420.1:p.Cys533=
ENST00000305188.12:c.1597T= ENSP00000306999.8:p.Cys533=
ENST00000397418.4:c.541T= ENSP00000380563.2:p.Cys181=
ENST00000522378.5:c.*572T= ENSP00000428928.1:n.*572T=
XM_011544421.1:c.1597T= XP_011542723.1:p.Cys533=
XM_011544421.2:c.1597T= XP_011542723.1:p.Cys533=
XM_011544422.1:c.1597T= XP_011542724.1:p.Cys533=
XM_011544422.2:c.1597T= XP_011542724.1:p.Cys533=
XR_949378.1:n.1681T=
XR_949378.3:n.1681T=
XR_949379.1:n.1681T=