Canonical Allele Identifier: CA2022136
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 576774
ClinVar RCV Id: RCV000755981 RCV002234105 RCV002440499
dbSNP Id: rs372220538
ExAC: 2:189915296 G / A
gnomAD v2: 2-189915296-G-A
gnomAD v3: 2-189050570-G-A
gnomAD v4: 2-189050570-G-A
MyVariant Identifiers: chr2:g.189915296G>A (hg19) chr2:g.189050570G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050570G>A , CM000664.2:g.189050570G>A GRCh38
NC_000002.11:g.189915296G>A , CM000664.1:g.189915296G>A GRCh37
NC_000002.10:g.189623541G>A NCBI36
NG_011799.1:g.134310C>T
NG_011799.2:g.134310C>T
NG_011799.3:g.179732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3038C>T MANE Select ENSP00000364000.3:p.Ala1013Val
ENST00000374866.7:c.3038C>T ENSP00000364000.3:p.Ala1013Val
ENST00000618828.1:c.1877C>T ENSP00000482184.1:p.Ala626Val
NM_000393.3:c.3038C>T NP_000384.2:p.Ala1013Val
XM_011510573.1:c.2900C>T XP_011508875.1:p.Ala967Val
NM_000393.4:c.3038C>T NP_000384.2:p.Ala1013Val
XM_011510573.3:c.2900C>T XP_011508875.1:p.Ala967Val
NM_000393.5:c.3038C>T MANE Select NP_000384.2:p.Ala1013Val
Search 100 bp 5'
Search 100 bp 3'