Canonical Allele Identifier: CA2577186613
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189062805-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062811dup , CM000664.2:g.189062811dup GRCh38
NC_000002.11:g.189927537dup , CM000664.1:g.189927537dup GRCh37
NC_000002.10:g.189635782dup NCBI36
NG_011799.1:g.122074dup
NG_011799.2:g.122074dup
NG_011799.3:g.167496dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1977+59dup MANE Select ENSP00000364000.3:n.1977+59dup
ENST00000374866.7:c.1977+59dup ENSP00000364000.3:n.1977+59dup
ENST00000470524.2:n.83+59dup
ENST00000618828.1:c.816+59dup ENSP00000482184.1:n.816+59dup
NM_000393.3:c.1977+59dup NP_000384.2:n.1977+59dup
XM_011510573.1:c.1839+59dup XP_011508875.1:n.1839+59dup
NM_000393.4:c.1977+59dup NP_000384.2:n.1977+59dup
XM_011510573.3:c.1839+59dup XP_011508875.1:n.1839+59dup
NM_000393.5:c.1977+59dup MANE Select NP_000384.2:n.1977+59dup
Search 100 bp 5'
Search 100 bp 3'