Canonical Allele Identifier: CA2021837
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1211021
ClinVar RCV Id: RCV001587499 RCV001866109
dbSNP Id: rs370026245
ExAC: 2:189899851 T / C
gnomAD v2: 2-189899851-T-C
gnomAD v3: 2-189035125-T-C
gnomAD v4: 2-189035125-T-C
MyVariant Identifiers: chr2:g.189899851T>C (hg19) chr2:g.189035125T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035125T>C , CM000664.2:g.189035125T>C GRCh38
NC_000002.11:g.189899851T>C , CM000664.1:g.189899851T>C GRCh37
NC_000002.10:g.189608096T>C NCBI36
NG_011799.1:g.149755A>G
NG_011799.2:g.149755A>G
NG_011799.3:g.195177A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.4144A>G MANE Select ENSP00000364000.3:p.Thr1382Ala
ENST00000374866.7:c.4144A>G ENSP00000364000.3:p.Thr1382Ala
ENST00000618828.1:c.2983A>G ENSP00000482184.1:p.Thr995Ala
NM_000393.3:c.4144A>G NP_000384.2:p.Thr1382Ala
XM_011510573.1:c.4006A>G XP_011508875.1:p.Thr1336Ala
NM_000393.4:c.4144A>G NP_000384.2:p.Thr1382Ala
XM_011510573.3:c.4006A>G XP_011508875.1:p.Thr1336Ala
NM_000393.5:c.4144A>G MANE Select NP_000384.2:p.Thr1382Ala
Search 100 bp 5'
Search 100 bp 3'