Canonical Allele Identifier: CA370823654

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787977-A-C
• MyVariant Identifiers: chr8:g.27645494A>C (hg19) ; chr8:g.27787977A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787977A>C , CM000670.2:g.27787977A>C	GRCh38
NC_000008.10:g.27645494A>C , CM000670.1:g.27645494A>C	GRCh37
NC_000008.9:g.27701413A>C	NCBI36
NG_008117.1:g.18437A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1106A>C MANE Select	ENSP00000306999.8:p.Lys369Thr
ENST00000305188.12:c.1106A>C	ENSP00000306999.8:p.Lys369Thr
ENST00000397418.4:c.50A>C	ENSP00000380563.2:p.Lys17Thr
ENST00000518262.5:c.220A>C
ENST00000522378.5:c.*81A>C	ENSP00000428928.1:n.*81A>C
NM_001017420.2:c.1106A>C	NP_001017420.1:p.Lys369Thr
XM_011544421.1:c.1106A>C	XP_011542723.1:p.Lys369Thr
XM_011544422.1:c.1106A>C	XP_011542724.1:p.Lys369Thr
XR_949378.1:n.1190A>C
XR_949379.1:n.1190A>C
XM_011544421.2:c.1106A>C	XP_011542723.1:p.Lys369Thr
XM_011544422.2:c.1106A>C	XP_011542724.1:p.Lys369Thr
XR_949378.3:n.1190A>C
NM_001017420.3:c.1106A>C MANE Select	NP_001017420.1:p.Lys369Thr