Canonical Allele Identifier: CA349878999
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062885A>C , CM000664.2:g.189062885A>C GRCh38
NC_000002.11:g.189927611A>C , CM000664.1:g.189927611A>C GRCh37
NC_000002.10:g.189635856A>C NCBI36
NG_011799.1:g.121995T>G
NG_011799.2:g.121995T>G
NG_011799.3:g.167417T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1957T>G MANE Select ENSP00000364000.3:p.Ser653Ala
ENST00000374866.7:c.1957T>G ENSP00000364000.3:p.Ser653Ala
ENST00000470524.2:n.63T>G
ENST00000618828.1:c.796T>G ENSP00000482184.1:p.Ser266Ala
NM_000393.3:c.1957T>G NP_000384.2:p.Ser653Ala
XM_011510573.1:c.1819T>G XP_011508875.1:p.Ser607Ala
NM_000393.4:c.1957T>G NP_000384.2:p.Ser653Ala
XM_011510573.3:c.1819T>G XP_011508875.1:p.Ser607Ala
NM_000393.5:c.1957T>G MANE Select NP_000384.2:p.Ser653Ala