Canonical Allele Identifier: CA349879037
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062893A>C , CM000664.2:g.189062893A>C GRCh38
NC_000002.11:g.189927619A>C , CM000664.1:g.189927619A>C GRCh37
NC_000002.10:g.189635864A>C NCBI36
NG_011799.1:g.121987T>G
NG_011799.2:g.121987T>G
NG_011799.3:g.167409T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1949T>G MANE Select ENSP00000364000.3:p.Val650Gly
ENST00000374866.7:c.1949T>G ENSP00000364000.3:p.Val650Gly
ENST00000470524.2:n.55T>G
ENST00000618828.1:c.788T>G ENSP00000482184.1:p.Val263Gly
NM_000393.3:c.1949T>G NP_000384.2:p.Val650Gly
XM_011510573.1:c.1811T>G XP_011508875.1:p.Val604Gly
NM_000393.4:c.1949T>G NP_000384.2:p.Val650Gly
XM_011510573.3:c.1811T>G XP_011508875.1:p.Val604Gly
NM_000393.5:c.1949T>G MANE Select NP_000384.2:p.Val650Gly