Canonical Allele Identifier: CA370823629

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787974-G-T
• MyVariant Identifiers: chr8:g.27645491G>T (hg19) ; chr8:g.27787974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787974G>T , CM000670.2:g.27787974G>T	GRCh38
NC_000008.10:g.27645491G>T , CM000670.1:g.27645491G>T	GRCh37
NC_000008.9:g.27701410G>T	NCBI36
NG_008117.1:g.18434G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1103G>T MANE Select	ENSP00000306999.8:p.Ser368Ile
ENST00000305188.12:c.1103G>T	ENSP00000306999.8:p.Ser368Ile
ENST00000397418.4:c.47G>T	ENSP00000380563.2:p.Ser16Ile
ENST00000518262.5:c.217G>T
ENST00000522378.5:c.*78G>T	ENSP00000428928.1:n.*78G>T
NM_001017420.2:c.1103G>T	NP_001017420.1:p.Ser368Ile
XM_011544421.1:c.1103G>T	XP_011542723.1:p.Ser368Ile
XM_011544422.1:c.1103G>T	XP_011542724.1:p.Ser368Ile
XR_949378.1:n.1187G>T
XR_949379.1:n.1187G>T
XM_011544421.2:c.1103G>T	XP_011542723.1:p.Ser368Ile
XM_011544422.2:c.1103G>T	XP_011542724.1:p.Ser368Ile
XR_949378.3:n.1187G>T
NM_001017420.3:c.1103G>T MANE Select	NP_001017420.1:p.Ser368Ile