Canonical Allele Identifier: CA349855229
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035118A>G , CM000664.2:g.189035118A>G GRCh38
NC_000002.11:g.189899844A>G , CM000664.1:g.189899844A>G GRCh37
NC_000002.10:g.189608089A>G NCBI36
NG_011799.1:g.149762T>C
NG_011799.2:g.149762T>C
NG_011799.3:g.195184T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.4151T>C MANE Select ENSP00000364000.3:p.Ile1384Thr
ENST00000374866.7:c.4151T>C ENSP00000364000.3:p.Ile1384Thr
ENST00000618828.1:c.2990T>C ENSP00000482184.1:p.Ile997Thr
NM_000393.3:c.4151T>C NP_000384.2:p.Ile1384Thr
XM_011510573.1:c.4013T>C XP_011508875.1:p.Ile1338Thr
NM_000393.4:c.4151T>C NP_000384.2:p.Ile1384Thr
XM_011510573.3:c.4013T>C XP_011508875.1:p.Ile1338Thr
NM_000393.5:c.4151T>C MANE Select NP_000384.2:p.Ile1384Thr