Canonical Allele Identifier: CA2662318315
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189052882-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189052882C>G , CM000664.2:g.189052882C>G GRCh38
NC_000002.11:g.189917608C>G , CM000664.1:g.189917608C>G GRCh37
NC_000002.10:g.189625853C>G NCBI36
NG_011799.1:g.131998G>C
NG_011799.2:g.131998G>C
NG_011799.3:g.177420G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2661+29G>C MANE Select ENSP00000364000.3:n.2661+29G>C
ENST00000374866.7:c.2661+29G>C ENSP00000364000.3:n.2661+29G>C
ENST00000618828.1:c.1500+29G>C ENSP00000482184.1:n.1500+29G>C
NM_000393.3:c.2661+29G>C NP_000384.2:n.2661+29G>C
XM_011510573.1:c.2523+29G>C XP_011508875.1:n.2523+29G>C
NM_000393.4:c.2661+29G>C NP_000384.2:n.2661+29G>C
XM_011510573.3:c.2523+29G>C XP_011508875.1:n.2523+29G>C
NM_000393.5:c.2661+29G>C MANE Select NP_000384.2:n.2661+29G>C
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