Canonical Allele Identifier: CA174261103

Gene: ESCO2

Linked Data

• dbSNP Id: rs1026091386
• gnomAD v3: 8-27787971-C-T
• gnomAD v4: 8-27787971-C-T
• MyVariant Identifiers: chr8:g.27645488C>T (hg19) ; chr8:g.27787971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787971C>T , CM000670.2:g.27787971C>T	GRCh38
NC_000008.10:g.27645488C>T , CM000670.1:g.27645488C>T	GRCh37
NC_000008.9:g.27701407C>T	NCBI36
NG_008117.1:g.18431C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1100C>T MANE Select	ENSP00000306999.8:p.Thr367Ile
ENST00000305188.12:c.1100C>T	ENSP00000306999.8:p.Thr367Ile
ENST00000397418.4:c.44C>T	ENSP00000380563.2:p.Thr15Ile
ENST00000518262.5:c.214C>T
ENST00000522378.5:c.*75C>T	ENSP00000428928.1:n.*75C>T
NM_001017420.2:c.1100C>T	NP_001017420.1:p.Thr367Ile
XM_011544421.1:c.1100C>T	XP_011542723.1:p.Thr367Ile
XM_011544422.1:c.1100C>T	XP_011542724.1:p.Thr367Ile
XR_949378.1:n.1184C>T
XR_949379.1:n.1184C>T
XM_011544421.2:c.1100C>T	XP_011542723.1:p.Thr367Ile
XM_011544422.2:c.1100C>T	XP_011542724.1:p.Thr367Ile
XR_949378.3:n.1184C>T
NM_001017420.3:c.1100C>T MANE Select	NP_001017420.1:p.Thr367Ile