Canonical Allele Identifier: CA2022141
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264616
ClinVar RCV Id: RCV000335468 RCV000423607 RCV001143723 RCV002311230 RCV002229829
dbSNP Id: rs201299226
ExAC: 2:189915346 G / A
gnomAD v2: 2-189915346-G-A
gnomAD v3: 2-189050620-G-A
gnomAD v4: 2-189050620-G-A
MyVariant Identifiers: chr2:g.189915346G>A (hg19) chr2:g.189050620G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050620G>A , CM000664.2:g.189050620G>A GRCh38
NC_000002.11:g.189915346G>A , CM000664.1:g.189915346G>A GRCh37
NC_000002.10:g.189623591G>A NCBI36
NG_011799.1:g.134260C>T
NG_011799.2:g.134260C>T
NG_011799.3:g.179682C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2988C>T MANE Select ENSP00000364000.3:p.Gly996=
ENST00000374866.7:c.2988C>T ENSP00000364000.3:p.Gly996=
ENST00000618828.1:c.1827C>T ENSP00000482184.1:p.Gly609=
NM_000393.3:c.2988C>T NP_000384.2:p.Gly996=
XM_011510573.1:c.2850C>T XP_011508875.1:p.Gly950=
NM_000393.4:c.2988C>T NP_000384.2:p.Gly996=
XM_011510573.3:c.2850C>T XP_011508875.1:p.Gly950=
NM_000393.5:c.2988C>T MANE Select NP_000384.2:p.Gly996=
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