Canonical Allele Identifier: CA1315431850
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189066365A= , CM000664.2:g.189066365A= GRCh38
NC_000002.11:g.189931091A= , CM000664.1:g.189931091A= GRCh37
NC_000002.10:g.189639336A= NCBI36
NG_011799.1:g.118515T=
NG_011799.2:g.118515T=
NG_011799.3:g.163937T=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.1563+25T= MANE Select ENSP00000364000.3:n.1563+25T=
ENST00000374866.7:c.1563+25T= ENSP00000364000.3:n.1563+25T=
ENST00000618828.1:c.402+25T= ENSP00000482184.1:n.402+25T=
NM_000393.3:c.1563+25T= NP_000384.2:n.1563+25T=
XM_011510573.1:c.1425+25T= XP_011508875.1:n.1425+25T=
NM_000393.4:c.1563+25T= NP_000384.2:n.1563+25T=
XM_011510573.3:c.1425+25T= XP_011508875.1:n.1425+25T=
NM_000393.5:c.1563+25T= MANE Select NP_000384.2:n.1563+25T=