Canonical Allele Identifier: CA62581276
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 755639
ClinVar RCV Id: RCV002235647
dbSNP Id: rs965891508
gnomAD v2: 2-189899744-C-T
gnomAD v3: 2-189035018-C-T
gnomAD v4: 2-189035018-C-T
MyVariant Identifiers: chr2:g.189899744C>T (hg19) chr2:g.189035018C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035018C>T , CM000664.2:g.189035018C>T GRCh38
NC_000002.11:g.189899744C>T , CM000664.1:g.189899744C>T GRCh37
NC_000002.10:g.189607989C>T NCBI36
NG_011799.1:g.149862G>A
NG_011799.2:g.149862G>A
NG_011799.3:g.195284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.4251G>A MANE Select ENSP00000364000.3:p.Lys1417=
ENST00000374866.7:c.4251G>A ENSP00000364000.3:p.Lys1417=
ENST00000618828.1:c.3090G>A ENSP00000482184.1:p.Lys1030=
NM_000393.3:c.4251G>A NP_000384.2:p.Lys1417=
XM_011510573.1:c.4113G>A XP_011508875.1:p.Lys1371=
NM_000393.4:c.4251G>A NP_000384.2:p.Lys1417=
XM_011510573.3:c.4113G>A XP_011508875.1:p.Lys1371=
NM_000393.5:c.4251G>A MANE Select NP_000384.2:p.Lys1417=
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