Canonical Allele Identifier: CA2578942136
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925759
ClinVar RCV Id: RCV003783853
gnomAD v4: 7-94423130-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423130C>A , CM000669.2:g.94423130C>A GRCh38
NC_000007.13:g.94052442C>A , CM000669.1:g.94052442C>A GRCh37
NC_000007.12:g.93890378C>A NCBI36
NG_007405.1:g.33570C>A , LRG_2:g.33570C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+12C>A MANE Select ENSP00000297268.6:n.2565+12C>A
ENST00000297268.10:c.2565+12C>A ENSP00000297268.6:n.2565+12C>A
ENST00000481570.5:n.660C>A
ENST00000620463.1:c.2559+12C>A ENSP00000477719.1:n.2559+12C>A
NM_000089.3:c.2565+12C>A , LRG_2t1:c.2565+12C>A NP_000080.2:n.2565+12C>A
NM_000089.4:c.2565+12C>A MANE Select NP_000080.2:n.2565+12C>A
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