Canonical Allele Identifier: CA1315428567
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058933T= , CM000664.2:g.189058933T= GRCh38
NC_000002.11:g.189923659T= , CM000664.1:g.189923659T= GRCh37
NC_000002.10:g.189631904T= NCBI36
NG_011799.1:g.125947A=
NG_011799.2:g.125947A=
NG_011799.3:g.171369A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-40A= MANE Select ENSP00000364000.3:n.2086-40A=
ENST00000374866.7:c.2086-40A= ENSP00000364000.3:n.2086-40A=
ENST00000470524.2:n.192-40A=
ENST00000618828.1:c.925-40A= ENSP00000482184.1:n.925-40A=
NM_000393.3:c.2086-40A= NP_000384.2:n.2086-40A=
XM_011510573.1:c.1948-40A= XP_011508875.1:n.1948-40A=
NM_000393.4:c.2086-40A= NP_000384.2:n.2086-40A=
XM_011510573.3:c.1948-40A= XP_011508875.1:n.1948-40A=
NM_000393.5:c.2086-40A= MANE Select NP_000384.2:n.2086-40A=