Canonical Allele Identifier: CA349879179
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062915C>A , CM000664.2:g.189062915C>A GRCh38
NC_000002.11:g.189927641C>A , CM000664.1:g.189927641C>A GRCh37
NC_000002.10:g.189635886C>A NCBI36
NG_011799.1:g.121965G>T
NG_011799.2:g.121965G>T
NG_011799.3:g.167387G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1927G>T MANE Select ENSP00000364000.3:p.Ala643Ser
ENST00000374866.7:c.1927G>T ENSP00000364000.3:p.Ala643Ser
ENST00000470524.2:n.33G>T
ENST00000618828.1:c.766G>T ENSP00000482184.1:p.Ala256Ser
NM_000393.3:c.1927G>T NP_000384.2:p.Ala643Ser
XM_011510573.1:c.1789G>T XP_011508875.1:p.Ala597Ser
NM_000393.4:c.1927G>T NP_000384.2:p.Ala643Ser
XM_011510573.3:c.1789G>T XP_011508875.1:p.Ala597Ser
NM_000393.5:c.1927G>T MANE Select NP_000384.2:p.Ala643Ser