Canonical Allele Identifier: CA2662317777
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189050610-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050613del , CM000664.2:g.189050613del GRCh38
NC_000002.11:g.189915339del , CM000664.1:g.189915339del GRCh37
NC_000002.10:g.189623584del NCBI36
NG_011799.1:g.134269del
NG_011799.2:g.134269del
NG_011799.3:g.179691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2997del MANE Select ENSP00000364000.3:p.Gln1000AsnfsTer20
ENST00000374866.7:c.2997del ENSP00000364000.3:p.Gln1000AsnfsTer20
ENST00000618828.1:c.1836del ENSP00000482184.1:p.Gln613AsnfsTer20
NM_000393.3:c.2997del NP_000384.2:p.Gln1000AsnfsTer20
XM_011510573.1:c.2859del XP_011508875.1:p.Gln954AsnfsTer20
NM_000393.4:c.2997del NP_000384.2:p.Gln1000AsnfsTer20
XM_011510573.3:c.2859del XP_011508875.1:p.Gln954AsnfsTer20
NM_000393.5:c.2997del MANE Select NP_000384.2:p.Gln1000AsnfsTer20
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