Canonical Allele Identifier: CA2662315370
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189066362-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189066362A>C , CM000664.2:g.189066362A>C GRCh38
NC_000002.11:g.189931088A>C , CM000664.1:g.189931088A>C GRCh37
NC_000002.10:g.189639333A>C NCBI36
NG_011799.1:g.118518T>G
NG_011799.2:g.118518T>G
NG_011799.3:g.163940T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.1563+28T>G MANE Select ENSP00000364000.3:n.1563+28T>G
ENST00000374866.7:c.1563+28T>G ENSP00000364000.3:n.1563+28T>G
ENST00000618828.1:c.402+28T>G ENSP00000482184.1:n.402+28T>G
NM_000393.3:c.1563+28T>G NP_000384.2:n.1563+28T>G
XM_011510573.1:c.1425+28T>G XP_011508875.1:n.1425+28T>G
NM_000393.4:c.1563+28T>G NP_000384.2:n.1563+28T>G
XM_011510573.3:c.1425+28T>G XP_011508875.1:n.1425+28T>G
NM_000393.5:c.1563+28T>G MANE Select NP_000384.2:n.1563+28T>G
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