Canonical Allele Identifier: CA370823043

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787887-C-A
• MyVariant Identifiers: chr8:g.27645404C>A (hg19) ; chr8:g.27787887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787887C>A , CM000670.2:g.27787887C>A	GRCh38
NC_000008.10:g.27645404C>A , CM000670.1:g.27645404C>A	GRCh37
NC_000008.9:g.27701323C>A	NCBI36
NG_008117.1:g.18347C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1016C>A MANE Select	ENSP00000306999.8:p.Ser339Tyr
ENST00000305188.12:c.1016C>A	ENSP00000306999.8:p.Ser339Tyr
ENST00000518262.5:c.130C>A
ENST00000522378.5:c.864C>A	ENSP00000428928.1:p.Ile288=
NM_001017420.2:c.1016C>A	NP_001017420.1:p.Ser339Tyr
XM_011544421.1:c.1016C>A	XP_011542723.1:p.Ser339Tyr
XM_011544422.1:c.1016C>A	XP_011542724.1:p.Ser339Tyr
XR_949378.1:n.1100C>A
XR_949379.1:n.1100C>A
XM_011544421.2:c.1016C>A	XP_011542723.1:p.Ser339Tyr
XM_011544422.2:c.1016C>A	XP_011542724.1:p.Ser339Tyr
XR_949378.3:n.1100C>A
NM_001017420.3:c.1016C>A MANE Select	NP_001017420.1:p.Ser339Tyr