Canonical Allele Identifier: CA4692322

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27792807A>C , CM000670.2:g.27792807A>C	GRCh38
NC_000008.10:g.27650324A>C , CM000670.1:g.27650324A>C	GRCh37
NC_000008.9:g.27706243A>C	NCBI36
NG_008117.1:g.23267A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.1493A>C MANE Select	NP_001017420.1:p.Lys498Thr
ENST00000305188.13:c.1493A>C MANE Select	ENSP00000306999.8:p.Lys498Thr
NM_001017420.2:c.1493A>C	NP_001017420.1:p.Lys498Thr
ENST00000305188.12:c.1493A>C	ENSP00000306999.8:p.Lys498Thr
ENST00000397418.4:c.437A>C	ENSP00000380563.2:p.Lys146Thr
ENST00000518262.5:c.467+755A>C
ENST00000522378.5:c.*468A>C	ENSP00000428928.1:n.*468A>C
XM_011544421.1:c.1493A>C	XP_011542723.1:p.Lys498Thr
XM_011544421.2:c.1493A>C	XP_011542723.1:p.Lys498Thr
XM_011544422.1:c.1493A>C	XP_011542724.1:p.Lys498Thr
XM_011544422.2:c.1493A>C	XP_011542724.1:p.Lys498Thr
XR_949378.1:n.1577A>C
XR_949378.3:n.1577A>C
XR_949379.1:n.1577A>C