Canonical Allele Identifier: CA2022510
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2877941
ClinVar RCV Id: RCV003759521
dbSNP Id: rs763248419
ExAC: 2:189927609 A / G
gnomAD v2: 2-189927609-A-G
gnomAD v4: 2-189062883-A-G
MyVariant Identifiers: chr2:g.189927609A>G (hg19) chr2:g.189062883A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062883A>G , CM000664.2:g.189062883A>G GRCh38
NC_000002.11:g.189927609A>G , CM000664.1:g.189927609A>G GRCh37
NC_000002.10:g.189635854A>G NCBI36
NG_011799.1:g.121997T>C
NG_011799.2:g.121997T>C
NG_011799.3:g.167419T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1959T>C MANE Select ENSP00000364000.3:p.Ser653=
ENST00000374866.7:c.1959T>C ENSP00000364000.3:p.Ser653=
ENST00000470524.2:n.65T>C
ENST00000618828.1:c.798T>C ENSP00000482184.1:p.Ser266=
NM_000393.3:c.1959T>C NP_000384.2:p.Ser653=
XM_011510573.1:c.1821T>C XP_011508875.1:p.Ser607=
NM_000393.4:c.1959T>C NP_000384.2:p.Ser653=
XM_011510573.3:c.1821T>C XP_011508875.1:p.Ser607=
NM_000393.5:c.1959T>C MANE Select NP_000384.2:p.Ser653=
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