Canonical Allele Identifier: CA349876443
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058893C>T , CM000664.2:g.189058893C>T GRCh38
NC_000002.11:g.189923619C>T , CM000664.1:g.189923619C>T GRCh37
NC_000002.10:g.189631864C>T NCBI36
NG_011799.1:g.125987G>A
NG_011799.2:g.125987G>A
NG_011799.3:g.171409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086G>A MANE Select ENSP00000364000.3:p.Gly696Ser
ENST00000374866.7:c.2086G>A ENSP00000364000.3:p.Gly696Ser
ENST00000470524.2:n.192G>A
ENST00000618828.1:c.925G>A ENSP00000482184.1:p.Gly309Ser
NM_000393.3:c.2086G>A NP_000384.2:p.Gly696Ser
XM_011510573.1:c.1948G>A XP_011508875.1:p.Gly650Ser
NM_000393.4:c.2086G>A NP_000384.2:p.Gly696Ser
XM_011510573.3:c.1948G>A XP_011508875.1:p.Gly650Ser
NM_000393.5:c.2086G>A MANE Select NP_000384.2:p.Gly696Ser