Canonical Allele Identifier: CA1315426011
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1685820342
gnomAD v4: 2-189052855-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189052855T>C , CM000664.2:g.189052855T>C GRCh38
NC_000002.11:g.189917581T>C , CM000664.1:g.189917581T>C GRCh37
NC_000002.10:g.189625826T>C NCBI36
NG_011799.1:g.132025A>G
NG_011799.2:g.132025A>G
NG_011799.3:g.177447A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2662-53A>G MANE Select ENSP00000364000.3:n.2662-53A>G
ENST00000374866.7:c.2662-53A>G ENSP00000364000.3:n.2662-53A>G
ENST00000618828.1:c.1501-53A>G ENSP00000482184.1:n.1501-53A>G
NM_000393.3:c.2662-53A>G NP_000384.2:n.2662-53A>G
XM_011510573.1:c.2524-53A>G XP_011508875.1:n.2524-53A>G
NM_000393.4:c.2662-53A>G NP_000384.2:n.2662-53A>G
XM_011510573.3:c.2524-53A>G XP_011508875.1:n.2524-53A>G
NM_000393.5:c.2662-53A>G MANE Select NP_000384.2:n.2662-53A>G
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