Canonical Allele Identifier: CA1315445932
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098810A= , CM000664.2:g.189098810A= GRCh38
NC_000002.11:g.189963536A= , CM000664.1:g.189963536A= GRCh37
NC_000002.10:g.189671781A= NCBI36
NG_011799.1:g.86070T=
NG_011799.2:g.86070T=
NG_011799.3:g.131492T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.370-51T= MANE Select ENSP00000364000.3:n.370-51T=
ENST00000649966.1:c.232-51T= ENSP00000496785.1:n.232-51T=
ENST00000374866.7:c.370-51T= ENSP00000364000.3:n.370-51T=
ENST00000618828.1:c.-261-51T= ENSP00000482184.1:n.-261-51T=
NM_000393.3:c.370-51T= NP_000384.2:n.370-51T=
XM_011510573.1:c.232-51T= XP_011508875.1:n.232-51T=
NM_000393.4:c.370-51T= NP_000384.2:n.370-51T=
XM_011510573.3:c.232-51T= XP_011508875.1:n.232-51T=
NM_000393.5:c.370-51T= MANE Select NP_000384.2:n.370-51T=
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