Canonical Allele Identifier: CA370823579

Gene: ESCO2

Linked Data

• MyVariant Identifiers: chr8:g.27645484G>T (hg19) ; chr8:g.27787967G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787967G>T , CM000670.2:g.27787967G>T	GRCh38
NC_000008.10:g.27645484G>T , CM000670.1:g.27645484G>T	GRCh37
NC_000008.9:g.27701403G>T	NCBI36
NG_008117.1:g.18427G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1096G>T MANE Select	ENSP00000306999.8:p.Asp366Tyr
ENST00000305188.12:c.1096G>T	ENSP00000306999.8:p.Asp366Tyr
ENST00000397418.4:c.40G>T	ENSP00000380563.2:p.Asp14Tyr
ENST00000518262.5:c.210G>T
ENST00000522378.5:c.*71G>T	ENSP00000428928.1:n.*71G>T
NM_001017420.2:c.1096G>T	NP_001017420.1:p.Asp366Tyr
XM_011544421.1:c.1096G>T	XP_011542723.1:p.Asp366Tyr
XM_011544422.1:c.1096G>T	XP_011542724.1:p.Asp366Tyr
XR_949378.1:n.1180G>T
XR_949379.1:n.1180G>T
XM_011544421.2:c.1096G>T	XP_011542723.1:p.Asp366Tyr
XM_011544422.2:c.1096G>T	XP_011542724.1:p.Asp366Tyr
XR_949378.3:n.1180G>T
NM_001017420.3:c.1096G>T MANE Select	NP_001017420.1:p.Asp366Tyr