Canonical Allele Identifier: CA1315428443
Gene: COL5A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058639A= , CM000664.2:g.189058639A= GRCh38
NC_000002.11:g.189923365A= , CM000664.1:g.189923365A= GRCh37
NC_000002.10:g.189631610A= NCBI36
NG_011799.1:g.126241T=
NG_011799.2:g.126241T=
NG_011799.3:g.171663T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2131-112T= MANE Select ENSP00000364000.3:n.2131-112T=
ENST00000374866.7:c.2131-112T= ENSP00000364000.3:n.2131-112T=
ENST00000470524.2:n.237-112T=
ENST00000618828.1:c.970-112T= ENSP00000482184.1:n.970-112T=
NM_000393.3:c.2131-112T= NP_000384.2:n.2131-112T=
XM_011510573.1:c.1993-112T= XP_011508875.1:n.1993-112T=
NM_000393.4:c.2131-112T= NP_000384.2:n.2131-112T=
XM_011510573.3:c.1993-112T= XP_011508875.1:n.1993-112T=
NM_000393.5:c.2131-112T= MANE Select NP_000384.2:n.2131-112T=
Search 100 bp 5'
Search 100 bp 3'