Canonical Allele Identifier: CA370823576

Gene: ESCO2

Linked Data

• MyVariant Identifiers: chr8:g.27645483A>T (hg19) ; chr8:g.27787966A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787966A>T , CM000670.2:g.27787966A>T	GRCh38
NC_000008.10:g.27645483A>T , CM000670.1:g.27645483A>T	GRCh37
NC_000008.9:g.27701402A>T	NCBI36
NG_008117.1:g.18426A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1095A>T MANE Select	ENSP00000306999.8:p.Arg365Ser
ENST00000305188.12:c.1095A>T	ENSP00000306999.8:p.Arg365Ser
ENST00000397418.4:c.39A>T	ENSP00000380563.2:p.Arg13Ser
ENST00000518262.5:c.209A>T
ENST00000522378.5:c.*70A>T	ENSP00000428928.1:n.*70A>T
NM_001017420.2:c.1095A>T	NP_001017420.1:p.Arg365Ser
XM_011544421.1:c.1095A>T	XP_011542723.1:p.Arg365Ser
XM_011544422.1:c.1095A>T	XP_011542724.1:p.Arg365Ser
XR_949378.1:n.1179A>T
XR_949379.1:n.1179A>T
XM_011544421.2:c.1095A>T	XP_011542723.1:p.Arg365Ser
XM_011544422.2:c.1095A>T	XP_011542724.1:p.Arg365Ser
XR_949378.3:n.1179A>T
NM_001017420.3:c.1095A>T MANE Select	NP_001017420.1:p.Arg365Ser