Canonical Allele Identifier: CA1315424918
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050377T= , CM000664.2:g.189050377T= GRCh38
NC_000002.11:g.189915103T= , CM000664.1:g.189915103T= GRCh37
NC_000002.10:g.189623348T= NCBI36
NG_011799.1:g.134503A=
NG_011799.2:g.134503A=
NG_011799.3:g.179925A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+192A= MANE Select ENSP00000364000.3:n.3039+192A=
ENST00000374866.7:c.3039+192A= ENSP00000364000.3:n.3039+192A=
ENST00000618828.1:c.1878+192A= ENSP00000482184.1:n.1878+192A=
NM_000393.3:c.3039+192A= NP_000384.2:n.3039+192A=
XM_011510573.1:c.2901+192A= XP_011508875.1:n.2901+192A=
NM_000393.4:c.3039+192A= NP_000384.2:n.3039+192A=
XM_011510573.3:c.2901+192A= XP_011508875.1:n.2901+192A=
NM_000393.5:c.3039+192A= MANE Select NP_000384.2:n.3039+192A=
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