Canonical Allele Identifier: CA1315430367
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062930C= , CM000664.2:g.189062930C= GRCh38
NC_000002.11:g.189927656C= , CM000664.1:g.189927656C= GRCh37
NC_000002.10:g.189635901C= NCBI36
NG_011799.1:g.121950G=
NG_011799.2:g.121950G=
NG_011799.3:g.167372G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1924-12G= MANE Select ENSP00000364000.3:n.1924-12G=
ENST00000374866.7:c.1924-12G= ENSP00000364000.3:n.1924-12G=
ENST00000470524.2:n.30-12G=
ENST00000618828.1:c.763-12G= ENSP00000482184.1:n.763-12G=
NM_000393.3:c.1924-12G= NP_000384.2:n.1924-12G=
XM_011510573.1:c.1786-12G= XP_011508875.1:n.1786-12G=
NM_000393.4:c.1924-12G= NP_000384.2:n.1924-12G=
XM_011510573.3:c.1786-12G= XP_011508875.1:n.1786-12G=
NM_000393.5:c.1924-12G= MANE Select NP_000384.2:n.1924-12G=