Canonical Allele Identifier: CA2662314002
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189058613-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058618del , CM000664.2:g.189058618del GRCh38
NC_000002.11:g.189923344del , CM000664.1:g.189923344del GRCh37
NC_000002.10:g.189631589del NCBI36
NG_011799.1:g.126266del
NG_011799.2:g.126266del
NG_011799.3:g.171688del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2131-87del MANE Select ENSP00000364000.3:n.2131-87del
ENST00000374866.7:c.2131-87del ENSP00000364000.3:n.2131-87del
ENST00000470524.2:n.237-87del
ENST00000618828.1:c.970-87del ENSP00000482184.1:n.970-87del
NM_000393.3:c.2131-87del NP_000384.2:n.2131-87del
XM_011510573.1:c.1993-87del XP_011508875.1:n.1993-87del
NM_000393.4:c.2131-87del NP_000384.2:n.2131-87del
XM_011510573.3:c.1993-87del XP_011508875.1:n.1993-87del
NM_000393.5:c.2131-87del MANE Select NP_000384.2:n.2131-87del
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