Canonical Allele Identifier: CA1315424981
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050510T= , CM000664.2:g.189050510T= GRCh38
NC_000002.11:g.189915236T= , CM000664.1:g.189915236T= GRCh37
NC_000002.10:g.189623481T= NCBI36
NG_011799.1:g.134370A=
NG_011799.2:g.134370A=
NG_011799.3:g.179792A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+59A= MANE Select ENSP00000364000.3:n.3039+59A=
ENST00000374866.7:c.3039+59A= ENSP00000364000.3:n.3039+59A=
ENST00000618828.1:c.1878+59A= ENSP00000482184.1:n.1878+59A=
NM_000393.3:c.3039+59A= NP_000384.2:n.3039+59A=
XM_011510573.1:c.2901+59A= XP_011508875.1:n.2901+59A=
NM_000393.4:c.3039+59A= NP_000384.2:n.3039+59A=
XM_011510573.3:c.2901+59A= XP_011508875.1:n.2901+59A=
NM_000393.5:c.3039+59A= MANE Select NP_000384.2:n.3039+59A=