Canonical Allele Identifier: CA2683767056
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94404486-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404486A>C , CM000669.2:g.94404486A>C GRCh38
NC_000007.13:g.94033798A>C , CM000669.1:g.94033798A>C GRCh37
NC_000007.12:g.93871734A>C NCBI36
NG_007405.1:g.14926A>C , LRG_2:g.14926A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-70A>C MANE Select ENSP00000297268.6:n.280-70A>C
ENST00000297268.10:c.280-70A>C ENSP00000297268.6:n.280-70A>C
ENST00000620463.1:c.274-70A>C ENSP00000477719.1:n.274-70A>C
NM_000089.3:c.280-70A>C , LRG_2t1:c.280-70A>C NP_000080.2:n.280-70A>C
NM_000089.4:c.280-70A>C MANE Select NP_000080.2:n.280-70A>C
Search 100 bp 5'
Search 100 bp 3'