Canonical Allele Identifier: CA10625316

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362747
• ClinVar RCV Id: RCV000264294
• dbSNP Id: rs533417099
• gnomAD v2: 8-27661025-CTATT-C
• gnomAD v3: 8-27803508-CTATT-C
• gnomAD v4: 8-27803508-CTATT-C
• MyVariant Identifiers: chr8:g.27661028_27661031del (hg19) ; chr8:g.27661026_27661029del (hg19) ; chr8:g.27803511_27803514del (hg38) ; chr8:g.27803509_27803512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803511_27803514del , CM000670.2:g.27803511_27803514del	GRCh38
NC_000008.10:g.27661028_27661031del , CM000670.1:g.27661028_27661031del	GRCh37
NC_000008.9:g.27716947_27716950del	NCBI36
NG_008117.1:g.33971_33974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*73_*76del MANE Select	ENSP00000306999.8:n.*73_*76del
ENST00000305188.12:c.*73_*76del	ENSP00000306999.8:n.*73_*76del
ENST00000397418.4:c.685+138_685+141del	ENSP00000380563.2:n.685+138_685+141del
ENST00000522378.5:c.*716+138_*716+141del	ENSP00000428928.1:n.*716+138_*716+141del
NM_001017420.2:c.*73_*76del	NP_001017420.1:n.*73_*76del
XM_011544421.1:c.*73_*76del	XP_011542723.1:n.*73_*76del
XM_011544422.1:c.1741+138_1741+141del	XP_011542724.1:n.1741+138_1741+141del
XR_949378.1:n.1825+138_1825+141del
XR_949379.1:n.1825+138_1825+141del
XM_011544421.2:c.*73_*76del	XP_011542723.1:n.*73_*76del
XM_011544422.2:c.1741+138_1741+141del	XP_011542724.1:n.1741+138_1741+141del
XR_949378.3:n.1825+138_1825+141del
NM_001017420.3:c.*73_*76del MANE Select	NP_001017420.1:n.*73_*76del