Canonical Allele Identifier: CA460060003

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787969-T-C
• MyVariant Identifiers: chr8:g.27645486T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787969T>C , CM000670.2:g.27787969T>C	GRCh38
NC_000008.10:g.27645486T>C , CM000670.1:g.27645486T>C	GRCh37
NC_000008.9:g.27701405T>C	NCBI36
NG_008117.1:g.18429T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1098T>C MANE Select	ENSP00000306999.8:p.Asp366=
ENST00000305188.12:c.1098T>C	ENSP00000306999.8:p.Asp366=
ENST00000397418.4:c.42T>C	ENSP00000380563.2:p.Asp14=
ENST00000518262.5:c.212T>C
ENST00000522378.5:c.*73T>C	ENSP00000428928.1:n.*73T>C
NM_001017420.2:c.1098T>C	NP_001017420.1:p.Asp366=
XM_011544421.1:c.1098T>C	XP_011542723.1:p.Asp366=
XM_011544422.1:c.1098T>C	XP_011542724.1:p.Asp366=
XR_949378.1:n.1182T>C
XR_949379.1:n.1182T>C
XM_011544421.2:c.1098T>C	XP_011542723.1:p.Asp366=
XM_011544422.2:c.1098T>C	XP_011542724.1:p.Asp366=
XR_949378.3:n.1182T>C
NM_001017420.3:c.1098T>C MANE Select	NP_001017420.1:p.Asp366=