Canonical Allele Identifier: CA2577186469
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189058792-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058792C>T , CM000664.2:g.189058792C>T GRCh38
NC_000002.11:g.189923518C>T , CM000664.1:g.189923518C>T GRCh37
NC_000002.10:g.189631763C>T NCBI36
NG_011799.1:g.126088G>A
NG_011799.2:g.126088G>A
NG_011799.3:g.171510G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2130+57G>A MANE Select ENSP00000364000.3:n.2130+57G>A
ENST00000374866.7:c.2130+57G>A ENSP00000364000.3:n.2130+57G>A
ENST00000470524.2:n.236+57G>A
ENST00000618828.1:c.969+57G>A ENSP00000482184.1:n.969+57G>A
NM_000393.3:c.2130+57G>A NP_000384.2:n.2130+57G>A
XM_011510573.1:c.1992+57G>A XP_011508875.1:n.1992+57G>A
NM_000393.4:c.2130+57G>A NP_000384.2:n.2130+57G>A
XM_011510573.3:c.1992+57G>A XP_011508875.1:n.1992+57G>A
NM_000393.5:c.2130+57G>A MANE Select NP_000384.2:n.2130+57G>A
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