Canonical Allele Identifier: CA2779512265

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787990_27787991insACACC , CM000670.2:g.27787990_27787991insACACC	GRCh38
NC_000008.10:g.27645507_27645508insACACC , CM000670.1:g.27645507_27645508insACACC	GRCh37
NC_000008.9:g.27701426_27701427insACACC	NCBI36
NG_008117.1:g.18450_18451insACACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.1119_1120insACACC MANE Select	ENSP00000306999.8:p.Gln374ThrfsTer23
ENST00000305188.12:c.1119_1120insACACC	ENSP00000306999.8:p.Gln374ThrfsTer23
ENST00000397418.4:c.63_64insACACC	ENSP00000380563.2:p.Gln22ThrfsTer23
ENST00000518262.5:c.233_234insACACC
ENST00000522378.5:c.*94_*95insACACC	ENSP00000428928.1:n.*94_*95insACACC
NM_001017420.2:c.1119_1120insACACC	NP_001017420.1:p.Gln374ThrfsTer23
XM_011544421.1:c.1119_1120insACACC	XP_011542723.1:p.Gln374ThrfsTer23
XM_011544422.1:c.1119_1120insACACC	XP_011542724.1:p.Gln374ThrfsTer23
XR_949378.1:n.1203_1204insACACC
XR_949379.1:n.1203_1204insACACC
XM_011544421.2:c.1119_1120insACACC	XP_011542723.1:p.Gln374ThrfsTer23
XM_011544422.2:c.1119_1120insACACC	XP_011542724.1:p.Gln374ThrfsTer23
XR_949378.3:n.1203_1204insACACC
NM_001017420.3:c.1119_1120insACACC MANE Select	NP_001017420.1:p.Gln374ThrfsTer23