Canonical Allele Identifier: CA460060820

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803379T>C , CM000670.2:g.27803379T>C	GRCh38
NC_000008.10:g.27660896T>C , CM000670.1:g.27660896T>C	GRCh37
NC_000008.9:g.27716815T>C	NCBI36
NG_008117.1:g.33839T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.1747T>C MANE Select	NP_001017420.1:p.Leu583=
ENST00000305188.13:c.1747T>C MANE Select	ENSP00000306999.8:p.Leu583=
NM_001017420.2:c.1747T>C	NP_001017420.1:p.Leu583=
ENST00000305188.12:c.1747T>C	ENSP00000306999.8:p.Leu583=
ENST00000397418.4:c.685+6T>C	ENSP00000380563.2:n.685+6T>C
ENST00000522378.5:c.*716+6T>C	ENSP00000428928.1:n.*716+6T>C
XM_011544421.1:c.1747T>C	XP_011542723.1:p.Leu583=
XM_011544421.2:c.1747T>C	XP_011542723.1:p.Leu583=
XM_011544422.1:c.1741+6T>C	XP_011542724.1:n.1741+6T>C
XM_011544422.2:c.1741+6T>C	XP_011542724.1:n.1741+6T>C
XR_949378.1:n.1825+6T>C
XR_949378.3:n.1825+6T>C
XR_949379.1:n.1825+6T>C