Canonical Allele Identifier: CA341779
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21232
ClinVar RCV Id: RCV000020394 RCV001229899
dbSNP Id: rs80359859
gnomAD v4: 8-27787975-T-TA
MyVariant Identifiers: chr8:g.27645499dupA (hg19) chr8:g.27645499_27645500insA (hg19) chr8:g.27645492_27645493insA (hg19) chr8:g.27787982dupA (hg38) chr8:g.27787982_27787983insA (hg38) chr8:g.27787975_27787976insA (hg38)
PubMed: PMID:15821733 PMID:20301332
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27787982dup , CM000670.2:g.27787982dup GRCh38
NC_000008.10:g.27645499dup , CM000670.1:g.27645499dup GRCh37
NC_000008.9:g.27701418dup NCBI36
NG_008117.1:g.18442dup

Transcript Alleles

HGVS Amino-acid change
ENST00000305188.13:c.1111dup MANE Select ENSP00000306999.8:p.Thr371AsnfsTer?
ENST00000305188.12:c.1111dup ENSP00000306999.8:p.Thr371AsnfsTer?
ENST00000397418.4:c.55dup ENSP00000380563.2:p.Thr19AsnfsTer?
ENST00000518262.5:c.225dup
ENST00000522378.5:c.*86dup ENSP00000428928.1:n.*86dup
NM_001017420.2:c.1111dup NP_001017420.1:p.Thr371AsnfsTer?
XM_011544421.1:c.1111dup XP_011542723.1:p.Thr371AsnfsTer?
XM_011544422.1:c.1111dup XP_011542724.1:p.Thr371AsnfsTer?
XR_949378.1:n.1195dup
XR_949379.1:n.1195dup
XM_011544421.2:c.1111dup XP_011542723.1:p.Thr371AsnfsTer?
XM_011544422.2:c.1111dup XP_011542724.1:p.Thr371AsnfsTer?
XR_949378.3:n.1195dup
NM_001017420.3:c.1111dup MANE Select NP_001017420.1:p.Thr371AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'