Canonical Allele Identifier: CA349879124
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062905T>G , CM000664.2:g.189062905T>G GRCh38
NC_000002.11:g.189927631T>G , CM000664.1:g.189927631T>G GRCh37
NC_000002.10:g.189635876T>G NCBI36
NG_011799.1:g.121975A>C
NG_011799.2:g.121975A>C
NG_011799.3:g.167397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1937A>C MANE Select ENSP00000364000.3:p.Lys646Thr
ENST00000374866.7:c.1937A>C ENSP00000364000.3:p.Lys646Thr
ENST00000470524.2:n.43A>C
ENST00000618828.1:c.776A>C ENSP00000482184.1:p.Lys259Thr
NM_000393.3:c.1937A>C NP_000384.2:p.Lys646Thr
XM_011510573.1:c.1799A>C XP_011508875.1:p.Lys600Thr
NM_000393.4:c.1937A>C NP_000384.2:p.Lys646Thr
XM_011510573.3:c.1799A>C XP_011508875.1:p.Lys600Thr
NM_000393.5:c.1937A>C MANE Select NP_000384.2:p.Lys646Thr