Canonical Allele Identifier: CA1315428418
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058578G= , CM000664.2:g.189058578G= GRCh38
NC_000002.11:g.189923304G= , CM000664.1:g.189923304G= GRCh37
NC_000002.10:g.189631549G= NCBI36
NG_011799.1:g.126302C=
NG_011799.2:g.126302C=
NG_011799.3:g.171724C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2131-51C= MANE Select ENSP00000364000.3:n.2131-51C=
ENST00000374866.7:c.2131-51C= ENSP00000364000.3:n.2131-51C=
ENST00000470524.2:n.237-51C=
ENST00000618828.1:c.970-51C= ENSP00000482184.1:n.970-51C=
NM_000393.3:c.2131-51C= NP_000384.2:n.2131-51C=
XM_011510573.1:c.1993-51C= XP_011508875.1:n.1993-51C=
NM_000393.4:c.2131-51C= NP_000384.2:n.2131-51C=
XM_011510573.3:c.1993-51C= XP_011508875.1:n.1993-51C=
NM_000393.5:c.2131-51C= MANE Select NP_000384.2:n.2131-51C=
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