Canonical Allele Identifier: CA1315424904
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050337C= , CM000664.2:g.189050337C= GRCh38
NC_000002.11:g.189915063C= , CM000664.1:g.189915063C= GRCh37
NC_000002.10:g.189623308C= NCBI36
NG_011799.1:g.134543G=
NG_011799.2:g.134543G=
NG_011799.3:g.179965G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+232G= MANE Select ENSP00000364000.3:n.3039+232G=
ENST00000374866.7:c.3039+232G= ENSP00000364000.3:n.3039+232G=
ENST00000618828.1:c.1878+232G= ENSP00000482184.1:n.1878+232G=
NM_000393.3:c.3039+232G= NP_000384.2:n.3039+232G=
XM_011510573.1:c.2901+232G= XP_011508875.1:n.2901+232G=
NM_000393.4:c.3039+232G= NP_000384.2:n.3039+232G=
XM_011510573.3:c.2901+232G= XP_011508875.1:n.2901+232G=
NM_000393.5:c.3039+232G= MANE Select NP_000384.2:n.3039+232G=
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