Canonical Allele Identifier: CA1104598018
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1792206407
gnomAD v3: 7-94423242-T-A
gnomAD v4: 7-94423242-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423242T>A , CM000669.2:g.94423242T>A GRCh38
NC_000007.13:g.94052554T>A , CM000669.1:g.94052554T>A GRCh37
NC_000007.12:g.93890490T>A NCBI36
NG_007405.1:g.33682T>A , LRG_2:g.33682T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+124T>A MANE Select ENSP00000297268.6:n.2565+124T>A
ENST00000297268.10:c.2565+124T>A ENSP00000297268.6:n.2565+124T>A
ENST00000481570.5:n.772T>A
ENST00000620463.1:c.2559+124T>A ENSP00000477719.1:n.2559+124T>A
NM_000089.3:c.2565+124T>A , LRG_2t1:c.2565+124T>A NP_000080.2:n.2565+124T>A
NM_000089.4:c.2565+124T>A MANE Select NP_000080.2:n.2565+124T>A
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