Canonical Allele Identifier: CA430321209
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 766194
ClinVar RCV Id: RCV002235752 RCV002320156
dbSNP Id: rs1576490715
gnomAD v3: 2-189045857-G-A
gnomAD v4: 2-189045857-G-A
MyVariant Identifiers: chr2:g.189910583G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045857G>A , CM000664.2:g.189045857G>A GRCh38
NC_000002.11:g.189910583G>A , CM000664.1:g.189910583G>A GRCh37
NC_000002.10:g.189618828G>A NCBI36
NG_011799.1:g.139023C>T
NG_011799.2:g.139023C>T
NG_011799.3:g.184445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3252C>T MANE Select ENSP00000364000.3:p.Ala1084=
ENST00000374866.7:c.3252C>T ENSP00000364000.3:p.Ala1084=
ENST00000618828.1:c.2091C>T ENSP00000482184.1:p.Ala697=
NM_000393.3:c.3252C>T NP_000384.2:p.Ala1084=
XM_011510573.1:c.3114C>T XP_011508875.1:p.Ala1038=
NM_000393.4:c.3252C>T NP_000384.2:p.Ala1084=
XM_011510573.3:c.3114C>T XP_011508875.1:p.Ala1038=
NM_000393.5:c.3252C>T MANE Select NP_000384.2:p.Ala1084=
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