Canonical Allele Identifier: CA370823606

Gene: ESCO2

Linked Data

• MyVariant Identifiers: chr8:g.27645487A>G (hg19) ; chr8:g.27787970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787970A>G , CM000670.2:g.27787970A>G	GRCh38
NC_000008.10:g.27645487A>G , CM000670.1:g.27645487A>G	GRCh37
NC_000008.9:g.27701406A>G	NCBI36
NG_008117.1:g.18430A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1099A>G MANE Select	ENSP00000306999.8:p.Thr367Ala
ENST00000305188.12:c.1099A>G	ENSP00000306999.8:p.Thr367Ala
ENST00000397418.4:c.43A>G	ENSP00000380563.2:p.Thr15Ala
ENST00000518262.5:c.213A>G
ENST00000522378.5:c.*74A>G	ENSP00000428928.1:n.*74A>G
NM_001017420.2:c.1099A>G	NP_001017420.1:p.Thr367Ala
XM_011544421.1:c.1099A>G	XP_011542723.1:p.Thr367Ala
XM_011544422.1:c.1099A>G	XP_011542724.1:p.Thr367Ala
XR_949378.1:n.1183A>G
XR_949379.1:n.1183A>G
XM_011544421.2:c.1099A>G	XP_011542723.1:p.Thr367Ala
XM_011544422.2:c.1099A>G	XP_011542724.1:p.Thr367Ala
XR_949378.3:n.1183A>G
NM_001017420.3:c.1099A>G MANE Select	NP_001017420.1:p.Thr367Ala