Canonical Allele Identifier: CA349867192
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2084235
ClinVar RCV Id: RCV002994600
dbSNP Id: rs1366499731
gnomAD v2: 2-189915389-G-T
gnomAD v4: 2-189050663-G-T
MyVariant Identifiers: chr2:g.189915389G>T (hg19) chr2:g.189050663G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050663G>T , CM000664.2:g.189050663G>T GRCh38
NC_000002.11:g.189915389G>T , CM000664.1:g.189915389G>T GRCh37
NC_000002.10:g.189623634G>T NCBI36
NG_011799.1:g.134217C>A
NG_011799.2:g.134217C>A
NG_011799.3:g.179639C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2945C>A MANE Select ENSP00000364000.3:p.Pro982His
ENST00000374866.7:c.2945C>A ENSP00000364000.3:p.Pro982His
ENST00000618828.1:c.1784C>A ENSP00000482184.1:p.Pro595His
NM_000393.3:c.2945C>A NP_000384.2:p.Pro982His
XM_011510573.1:c.2807C>A XP_011508875.1:p.Pro936His
NM_000393.4:c.2945C>A NP_000384.2:p.Pro982His
XM_011510573.3:c.2807C>A XP_011508875.1:p.Pro936His
NM_000393.5:c.2945C>A MANE Select NP_000384.2:p.Pro982His
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