Canonical Allele Identifier: CA1315426024
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189052884A= , CM000664.2:g.189052884A= GRCh38
NC_000002.11:g.189917610A= , CM000664.1:g.189917610A= GRCh37
NC_000002.10:g.189625855A= NCBI36
NG_011799.1:g.131996T=
NG_011799.2:g.131996T=
NG_011799.3:g.177418T=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2661+27T= MANE Select ENSP00000364000.3:n.2661+27T=
ENST00000374866.7:c.2661+27T= ENSP00000364000.3:n.2661+27T=
ENST00000618828.1:c.1500+27T= ENSP00000482184.1:n.1500+27T=
NM_000393.3:c.2661+27T= NP_000384.2:n.2661+27T=
XM_011510573.1:c.2523+27T= XP_011508875.1:n.2523+27T=
NM_000393.4:c.2661+27T= NP_000384.2:n.2661+27T=
XM_011510573.3:c.2523+27T= XP_011508875.1:n.2523+27T=
NM_000393.5:c.2661+27T= MANE Select NP_000384.2:n.2661+27T=
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