Canonical Allele Identifier: CA2578942139
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94423175-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423175C>A , CM000669.2:g.94423175C>A GRCh38
NC_000007.13:g.94052487C>A , CM000669.1:g.94052487C>A GRCh37
NC_000007.12:g.93890423C>A NCBI36
NG_007405.1:g.33615C>A , LRG_2:g.33615C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+57C>A MANE Select ENSP00000297268.6:n.2565+57C>A
ENST00000297268.10:c.2565+57C>A ENSP00000297268.6:n.2565+57C>A
ENST00000481570.5:n.705C>A
ENST00000620463.1:c.2559+57C>A ENSP00000477719.1:n.2559+57C>A
NM_000089.3:c.2565+57C>A , LRG_2t1:c.2565+57C>A NP_000080.2:n.2565+57C>A
NM_000089.4:c.2565+57C>A MANE Select NP_000080.2:n.2565+57C>A
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