Canonical Allele Identifier: CA322857
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213101
dbSNP Id: rs863223491

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062865C>T , CM000664.2:g.189062865C>T GRCh38
NC_000002.11:g.189927591C>T , CM000664.1:g.189927591C>T GRCh37
NC_000002.10:g.189635836C>T NCBI36
NG_011799.1:g.122015G>A
NG_011799.2:g.122015G>A
NG_011799.3:g.167437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.1977G>A MANE Select ENSP00000364000.3:p.Pro659=
ENST00000374866.7:c.1977G>A ENSP00000364000.3:p.Pro659=
ENST00000470524.2:n.83G>A
ENST00000618828.1:c.816G>A ENSP00000482184.1:p.Pro272=
NM_000393.3:c.1977G>A NP_000384.2:p.Pro659=
XM_011510573.1:c.1839G>A XP_011508875.1:p.Pro613=
NM_000393.4:c.1977G>A NP_000384.2:p.Pro659=
XM_011510573.3:c.1839G>A XP_011508875.1:p.Pro613=
NM_000393.5:c.1977G>A MANE Select NP_000384.2:p.Pro659=