Canonical Allele Identifier: CA1315424928
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050400G= , CM000664.2:g.189050400G= GRCh38
NC_000002.11:g.189915126G= , CM000664.1:g.189915126G= GRCh37
NC_000002.10:g.189623371G= NCBI36
NG_011799.1:g.134480C=
NG_011799.2:g.134480C=
NG_011799.3:g.179902C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+169C= MANE Select ENSP00000364000.3:n.3039+169C=
ENST00000374866.7:c.3039+169C= ENSP00000364000.3:n.3039+169C=
ENST00000618828.1:c.1878+169C= ENSP00000482184.1:n.1878+169C=
NM_000393.3:c.3039+169C= NP_000384.2:n.3039+169C=
XM_011510573.1:c.2901+169C= XP_011508875.1:n.2901+169C=
NM_000393.4:c.3039+169C= NP_000384.2:n.3039+169C=
XM_011510573.3:c.2901+169C= XP_011508875.1:n.2901+169C=
NM_000393.5:c.3039+169C= MANE Select NP_000384.2:n.3039+169C=
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