Canonical Allele Identifier: CA10627590

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362739
• ClinVar RCV Id: RCV000311161 ; RCV002523676 ; RCV002523677
• dbSNP Id: rs80359859
• gnomAD v2: 8-27645492-TAAA-T
• gnomAD v3: 8-27787975-TAAA-T
• gnomAD v4: 8-27787975-TAAA-T
• MyVariant Identifiers: chr8:g.27645497_27645499del (hg19) ; chr8:g.27645493_27645495del (hg19) ; chr8:g.27787980_27787982del (hg38) ; chr8:g.27787977_27787979del (hg38) ; chr8:g.27787976_27787978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787980_27787982del , CM000670.2:g.27787980_27787982del	GRCh38
NC_000008.10:g.27645497_27645499del , CM000670.1:g.27645497_27645499del	GRCh37
NC_000008.9:g.27701416_27701418del	NCBI36
NG_008117.1:g.18440_18442del

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1109_1111del MANE Select	ENSP00000306999.8:p.Lys370del
ENST00000305188.12:c.1109_1111del	ENSP00000306999.8:p.Lys370del
ENST00000397418.4:c.53_55del	ENSP00000380563.2:p.Lys18del
ENST00000518262.5:c.223_225del
ENST00000522378.5:c.*84_*86del	ENSP00000428928.1:n.*84_*86del
NM_001017420.2:c.1109_1111del	NP_001017420.1:p.Lys370del
XM_011544421.1:c.1109_1111del	XP_011542723.1:p.Lys370del
XM_011544422.1:c.1109_1111del	XP_011542724.1:p.Lys370del
XR_949378.1:n.1193_1195del
XR_949379.1:n.1193_1195del
XM_011544421.2:c.1109_1111del	XP_011542723.1:p.Lys370del
XM_011544422.2:c.1109_1111del	XP_011542724.1:p.Lys370del
XR_949378.3:n.1193_1195del
NM_001017420.3:c.1109_1111del MANE Select	NP_001017420.1:p.Lys370del