Canonical Allele Identifier: CA349867071
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 653415
ClinVar RCV Id: RCV000997625 RCV002234764
dbSNP Id: rs1354785209
gnomAD v2: 2-189915353-A-G
gnomAD v4: 2-189050627-A-G
MyVariant Identifiers: chr2:g.189915353A>G (hg19) chr2:g.189050627A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050627A>G , CM000664.2:g.189050627A>G GRCh38
NC_000002.11:g.189915353A>G , CM000664.1:g.189915353A>G GRCh37
NC_000002.10:g.189623598A>G NCBI36
NG_011799.1:g.134253T>C
NG_011799.2:g.134253T>C
NG_011799.3:g.179675T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2981T>C MANE Select ENSP00000364000.3:p.Ile994Thr
ENST00000374866.7:c.2981T>C ENSP00000364000.3:p.Ile994Thr
ENST00000618828.1:c.1820T>C ENSP00000482184.1:p.Ile607Thr
NM_000393.3:c.2981T>C NP_000384.2:p.Ile994Thr
XM_011510573.1:c.2843T>C XP_011508875.1:p.Ile948Thr
NM_000393.4:c.2981T>C NP_000384.2:p.Ile994Thr
XM_011510573.3:c.2843T>C XP_011508875.1:p.Ile948Thr
NM_000393.5:c.2981T>C MANE Select NP_000384.2:p.Ile994Thr
Search 100 bp 5'
Search 100 bp 3'