Canonical Allele Identifier: CA2686706219

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787862-ATATATCAACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787864_27787873del , CM000670.2:g.27787864_27787873del	GRCh38
NC_000008.10:g.27645381_27645390del , CM000670.1:g.27645381_27645390del	GRCh37
NC_000008.9:g.27701300_27701309del	NCBI36
NG_008117.1:g.18324_18333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-21_1014-12del MANE Select	ENSP00000306999.8:n.1014-21_1014-12del
ENST00000305188.12:c.1014-21_1014-12del	ENSP00000306999.8:n.1014-21_1014-12del
ENST00000518262.5:c.128-21_128-12del
ENST00000522378.5:c.862-21_862-12del	ENSP00000428928.1:n.862-21_862-12del
NM_001017420.2:c.1014-21_1014-12del	NP_001017420.1:n.1014-21_1014-12del
XM_011544421.1:c.1014-21_1014-12del	XP_011542723.1:n.1014-21_1014-12del
XM_011544422.1:c.1014-21_1014-12del	XP_011542724.1:n.1014-21_1014-12del
XR_949378.1:n.1098-21_1098-12del
XR_949379.1:n.1098-21_1098-12del
XM_011544421.2:c.1014-21_1014-12del	XP_011542723.1:n.1014-21_1014-12del
XM_011544422.2:c.1014-21_1014-12del	XP_011542724.1:n.1014-21_1014-12del
XR_949378.3:n.1098-21_1098-12del
NM_001017420.3:c.1014-21_1014-12del MANE Select	NP_001017420.1:n.1014-21_1014-12del