Canonical Allele Identifier: CA1040409547
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v3: 2-189058917-A-T
gnomAD v4: 2-189058917-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058917A>T , CM000664.2:g.189058917A>T GRCh38
NC_000002.11:g.189923643A>T , CM000664.1:g.189923643A>T GRCh37
NC_000002.10:g.189631888A>T NCBI36
NG_011799.1:g.125963T>A
NG_011799.2:g.125963T>A
NG_011799.3:g.171385T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-24T>A MANE Select ENSP00000364000.3:n.2086-24T>A
ENST00000374866.7:c.2086-24T>A ENSP00000364000.3:n.2086-24T>A
ENST00000470524.2:n.192-24T>A
ENST00000618828.1:c.925-24T>A ENSP00000482184.1:n.925-24T>A
NM_000393.3:c.2086-24T>A NP_000384.2:n.2086-24T>A
XM_011510573.1:c.1948-24T>A XP_011508875.1:n.1948-24T>A
NM_000393.4:c.2086-24T>A NP_000384.2:n.2086-24T>A
XM_011510573.3:c.1948-24T>A XP_011508875.1:n.1948-24T>A
NM_000393.5:c.2086-24T>A MANE Select NP_000384.2:n.2086-24T>A
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