Canonical Allele Identifier: CA281080
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17198
dbSNP Id: rs121912930

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043177C>G , CM000664.2:g.189043177C>G GRCh38
NC_000002.11:g.189907903C>G , CM000664.1:g.189907903C>G GRCh37
NC_000002.10:g.189616148C>G NCBI36
NG_011799.1:g.141703G>C
NG_011799.2:g.141703G>C
NG_011799.3:g.187125G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3445G>C MANE Select ENSP00000364000.3:p.Gly1149Arg
ENST00000374866.7:c.3445G>C ENSP00000364000.3:p.Gly1149Arg
ENST00000618828.1:c.2284G>C ENSP00000482184.1:p.Gly762Arg
NM_000393.3:c.3445G>C NP_000384.2:p.Gly1149Arg
XM_011510573.1:c.3307G>C XP_011508875.1:p.Gly1103Arg
NM_000393.4:c.3445G>C NP_000384.2:p.Gly1149Arg
XM_011510573.3:c.3307G>C XP_011508875.1:p.Gly1103Arg
NM_000393.5:c.3445G>C MANE Select NP_000384.2:p.Gly1149Arg