Canonical Allele Identifier: CA2683772015
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94422770-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422772del , CM000669.2:g.94422772del GRCh38
NC_000007.13:g.94052084del , CM000669.1:g.94052084del GRCh37
NC_000007.12:g.93890020del NCBI36
NG_007405.1:g.33212del , LRG_2:g.33212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-185del MANE Select ENSP00000297268.6:n.2404-185del
ENST00000297268.10:c.2404-185del ENSP00000297268.6:n.2404-185del
ENST00000481570.5:n.302del
ENST00000497316.5:n.801-185del
ENST00000620463.1:c.2398-185del ENSP00000477719.1:n.2398-185del
NM_000089.3:c.2404-185del , LRG_2t1:c.2404-185del NP_000080.2:n.2404-185del
NM_000089.4:c.2404-185del MANE Select NP_000080.2:n.2404-185del
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