Canonical Allele Identifier: CA1315418909
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045918T= , CM000664.2:g.189045918T= GRCh38
NC_000002.11:g.189910644T= , CM000664.1:g.189910644T= GRCh37
NC_000002.10:g.189618889T= NCBI36
NG_011799.1:g.138962A=
NG_011799.2:g.138962A=
NG_011799.3:g.184384A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3202-11A= MANE Select ENSP00000364000.3:n.3202-11A=
ENST00000374866.7:c.3202-11A= ENSP00000364000.3:n.3202-11A=
ENST00000618828.1:c.2041-11A= ENSP00000482184.1:n.2041-11A=
NM_000393.3:c.3202-11A= NP_000384.2:n.3202-11A=
XM_011510573.1:c.3064-11A= XP_011508875.1:n.3064-11A=
NM_000393.4:c.3202-11A= NP_000384.2:n.3202-11A=
XM_011510573.3:c.3064-11A= XP_011508875.1:n.3064-11A=
NM_000393.5:c.3202-11A= MANE Select NP_000384.2:n.3202-11A=