Canonical Allele Identifier: CA341794

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 21249
• ClinVar RCV Id: RCV000020411 ; RCV001380055
• dbSNP Id: rs80359855
• gnomAD v3: 8-27777069-CTT-C
• gnomAD v4: 8-27777069-CTT-C
• MyVariant Identifiers: chr8:g.27634589_27634590del (hg19) ; chr8:g.27777072_27777073del (hg38)
• PubMed: PMID:18411254 ; PMID:20301332

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27777072_27777073del , CM000670.2:g.27777072_27777073del	GRCh38
NC_000008.10:g.27634589_27634590del , CM000670.1:g.27634589_27634590del	GRCh37
NC_000008.9:g.27690508_27690509del	NCBI36
NG_008117.1:g.7532_7533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.764_765del MANE Select	ENSP00000306999.8:p.Phe255CysfsTer25
ENST00000305188.12:c.764_765del	ENSP00000306999.8:p.Phe255CysfsTer25
ENST00000522378.5:c.764_765del	ENSP00000428928.1:p.Phe255CysfsTer25
ENST00000523910.1:n.563_564del
ENST00000524293.1:n.782_783del
NM_001017420.2:c.764_765del	NP_001017420.1:p.Phe255CysfsTer25
XM_011544421.1:c.764_765del	XP_011542723.1:p.Phe255CysfsTer25
XM_011544422.1:c.764_765del	XP_011542724.1:p.Phe255CysfsTer25
XR_949378.1:n.848_849del
XR_949379.1:n.848_849del
XM_011544421.2:c.764_765del	XP_011542723.1:p.Phe255CysfsTer25
XM_011544422.2:c.764_765del	XP_011542724.1:p.Phe255CysfsTer25
XR_949378.3:n.848_849del
NM_001017420.3:c.764_765del MANE Select	NP_001017420.1:p.Phe255CysfsTer25