Canonical Allele Identifier: CA2577186979
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189098632-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098632A>T , CM000664.2:g.189098632A>T GRCh38
NC_000002.11:g.189963358A>T , CM000664.1:g.189963358A>T GRCh37
NC_000002.10:g.189671603A>T NCBI36
NG_011799.1:g.86248T>A
NG_011799.2:g.86248T>A
NG_011799.3:g.131670T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.402+95T>A MANE Select ENSP00000364000.3:n.402+95T>A
ENST00000649966.1:c.264+95T>A ENSP00000496785.1:n.264+95T>A
ENST00000374866.7:c.402+95T>A ENSP00000364000.3:n.402+95T>A
ENST00000618828.1:c.-229+95T>A ENSP00000482184.1:n.-229+95T>A
NM_000393.3:c.402+95T>A NP_000384.2:n.402+95T>A
XM_011510573.1:c.264+95T>A XP_011508875.1:n.264+95T>A
NM_000393.4:c.402+95T>A NP_000384.2:n.402+95T>A
XM_011510573.3:c.264+95T>A XP_011508875.1:n.264+95T>A
NM_000393.5:c.402+95T>A MANE Select NP_000384.2:n.402+95T>A
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