Canonical Allele Identifier: CA349867051
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050622C>G , CM000664.2:g.189050622C>G GRCh38
NC_000002.11:g.189915348C>G , CM000664.1:g.189915348C>G GRCh37
NC_000002.10:g.189623593C>G NCBI36
NG_011799.1:g.134258G>C
NG_011799.2:g.134258G>C
NG_011799.3:g.179680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2986G>C MANE Select ENSP00000364000.3:p.Gly996Arg
ENST00000374866.7:c.2986G>C ENSP00000364000.3:p.Gly996Arg
ENST00000618828.1:c.1825G>C ENSP00000482184.1:p.Gly609Arg
NM_000393.3:c.2986G>C NP_000384.2:p.Gly996Arg
XM_011510573.1:c.2848G>C XP_011508875.1:p.Gly950Arg
NM_000393.4:c.2986G>C NP_000384.2:p.Gly996Arg
XM_011510573.3:c.2848G>C XP_011508875.1:p.Gly950Arg
NM_000393.5:c.2986G>C MANE Select NP_000384.2:p.Gly996Arg