Canonical Allele Identifier: CA2683772171
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423260-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423260C>G , CM000669.2:g.94423260C>G GRCh38
NC_000007.13:g.94052572C>G , CM000669.1:g.94052572C>G GRCh37
NC_000007.12:g.93890508C>G NCBI36
NG_007405.1:g.33700C>G , LRG_2:g.33700C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+142C>G MANE Select ENSP00000297268.6:n.2565+142C>G
ENST00000297268.10:c.2565+142C>G ENSP00000297268.6:n.2565+142C>G
ENST00000481570.5:n.790C>G
ENST00000620463.1:c.2559+142C>G ENSP00000477719.1:n.2559+142C>G
NM_000089.3:c.2565+142C>G , LRG_2t1:c.2565+142C>G NP_000080.2:n.2565+142C>G
NM_000089.4:c.2565+142C>G MANE Select NP_000080.2:n.2565+142C>G
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