Canonical Allele Identifier: CA1315428636
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189059101T= , CM000664.2:g.189059101T= GRCh38
NC_000002.11:g.189923827T= , CM000664.1:g.189923827T= GRCh37
NC_000002.10:g.189632072T= NCBI36
NG_011799.1:g.125779A=
NG_011799.2:g.125779A=
NG_011799.3:g.171201A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-208A= MANE Select ENSP00000364000.3:n.2086-208A=
ENST00000374866.7:c.2086-208A= ENSP00000364000.3:n.2086-208A=
ENST00000470524.2:n.192-208A=
ENST00000618828.1:c.925-208A= ENSP00000482184.1:n.925-208A=
NM_000393.3:c.2086-208A= NP_000384.2:n.2086-208A=
XM_011510573.1:c.1948-208A= XP_011508875.1:n.1948-208A=
NM_000393.4:c.2086-208A= NP_000384.2:n.2086-208A=
XM_011510573.3:c.1948-208A= XP_011508875.1:n.1948-208A=
NM_000393.5:c.2086-208A= MANE Select NP_000384.2:n.2086-208A=
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