Canonical Allele Identifier: CA2662317858
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189050803-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050803A>C , CM000664.2:g.189050803A>C GRCh38
NC_000002.11:g.189915529A>C , CM000664.1:g.189915529A>C GRCh37
NC_000002.10:g.189623774A>C NCBI36
NG_011799.1:g.134077T>G
NG_011799.2:g.134077T>G
NG_011799.3:g.179499T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2932-127T>G MANE Select ENSP00000364000.3:n.2932-127T>G
ENST00000374866.7:c.2932-127T>G ENSP00000364000.3:n.2932-127T>G
ENST00000618828.1:c.1771-127T>G ENSP00000482184.1:n.1771-127T>G
NM_000393.3:c.2932-127T>G NP_000384.2:n.2932-127T>G
XM_011510573.1:c.2794-127T>G XP_011508875.1:n.2794-127T>G
NM_000393.4:c.2932-127T>G NP_000384.2:n.2932-127T>G
XM_011510573.3:c.2794-127T>G XP_011508875.1:n.2794-127T>G
NM_000393.5:c.2932-127T>G MANE Select NP_000384.2:n.2932-127T>G
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