Canonical Allele Identifier: CA1315428426
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058599T= , CM000664.2:g.189058599T= GRCh38
NC_000002.11:g.189923325T= , CM000664.1:g.189923325T= GRCh37
NC_000002.10:g.189631570T= NCBI36
NG_011799.1:g.126281A=
NG_011799.2:g.126281A=
NG_011799.3:g.171703A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2131-72A= MANE Select ENSP00000364000.3:n.2131-72A=
ENST00000374866.7:c.2131-72A= ENSP00000364000.3:n.2131-72A=
ENST00000470524.2:n.237-72A=
ENST00000618828.1:c.970-72A= ENSP00000482184.1:n.970-72A=
NM_000393.3:c.2131-72A= NP_000384.2:n.2131-72A=
XM_011510573.1:c.1993-72A= XP_011508875.1:n.1993-72A=
NM_000393.4:c.2131-72A= NP_000384.2:n.2131-72A=
XM_011510573.3:c.1993-72A= XP_011508875.1:n.1993-72A=
NM_000393.5:c.2131-72A= MANE Select NP_000384.2:n.2131-72A=