Canonical Allele Identifier: CA1315419048
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189046099C= , CM000664.2:g.189046099C= GRCh38
NC_000002.11:g.189910825C= , CM000664.1:g.189910825C= GRCh37
NC_000002.10:g.189619070C= NCBI36
NG_011799.1:g.138781G=
NG_011799.2:g.138781G=
NG_011799.3:g.184203G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3202-192G= MANE Select ENSP00000364000.3:n.3202-192G=
ENST00000374866.7:c.3202-192G= ENSP00000364000.3:n.3202-192G=
ENST00000618828.1:c.2041-192G= ENSP00000482184.1:n.2041-192G=
NM_000393.3:c.3202-192G= NP_000384.2:n.3202-192G=
XM_011510573.1:c.3064-192G= XP_011508875.1:n.3064-192G=
NM_000393.4:c.3202-192G= NP_000384.2:n.3202-192G=
XM_011510573.3:c.3064-192G= XP_011508875.1:n.3064-192G=
NM_000393.5:c.3202-192G= MANE Select NP_000384.2:n.3202-192G=