Canonical Allele Identifier: CA4692193
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 257053
ClinVar RCV Id: RCV000253341 RCV001543994 RCV001543995 RCV001682994
dbSNP Id: rs1824449
ExAC: 8:27641609 G / A
gnomAD v2: 8-27641609-G-A
gnomAD v3: 8-27784092-G-A
gnomAD v4: 8-27784092-G-A
MyVariant Identifiers: chr8:g.27641609G>A (hg19) chr8:g.27784092G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27784092G>A , CM000670.2:g.27784092G>A GRCh38
NC_000008.10:g.27641609G>A , CM000670.1:g.27641609G>A GRCh37
NC_000008.9:g.27697528G>A NCBI36
NG_008117.1:g.14552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.1013+35G>A MANE Select ENSP00000306999.8:n.1013+35G>A
ENST00000305188.12:c.1013+35G>A ENSP00000306999.8:n.1013+35G>A
ENST00000518262.5:c.127+35G>A
ENST00000522378.5:c.862-3793G>A ENSP00000428928.1:n.862-3793G>A
NM_001017420.2:c.1013+35G>A NP_001017420.1:n.1013+35G>A
XM_011544421.1:c.1013+35G>A XP_011542723.1:n.1013+35G>A
XM_011544422.1:c.1013+35G>A XP_011542724.1:n.1013+35G>A
XR_949378.1:n.1097+35G>A
XR_949379.1:n.1097+35G>A
XM_011544421.2:c.1013+35G>A XP_011542723.1:n.1013+35G>A
XM_011544422.2:c.1013+35G>A XP_011542724.1:n.1013+35G>A
XR_949378.3:n.1097+35G>A
NM_001017420.3:c.1013+35G>A MANE Select NP_001017420.1:n.1013+35G>A
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