Canonical Allele Identifier: CA349876143
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058853G>T , CM000664.2:g.189058853G>T GRCh38
NC_000002.11:g.189923579G>T , CM000664.1:g.189923579G>T GRCh37
NC_000002.10:g.189631824G>T NCBI36
NG_011799.1:g.126027C>A
NG_011799.2:g.126027C>A
NG_011799.3:g.171449C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2126C>A MANE Select ENSP00000364000.3:p.Pro709His
ENST00000374866.7:c.2126C>A ENSP00000364000.3:p.Pro709His
ENST00000470524.2:n.232C>A
ENST00000618828.1:c.965C>A ENSP00000482184.1:p.Pro322His
NM_000393.3:c.2126C>A NP_000384.2:p.Pro709His
XM_011510573.1:c.1988C>A XP_011508875.1:p.Pro663His
NM_000393.4:c.2126C>A NP_000384.2:p.Pro709His
XM_011510573.3:c.1988C>A XP_011508875.1:p.Pro663His
NM_000393.5:c.2126C>A MANE Select NP_000384.2:p.Pro709His