Canonical Allele Identifier: CA2683772047
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94422816-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422816T>C , CM000669.2:g.94422816T>C GRCh38
NC_000007.13:g.94052128T>C , CM000669.1:g.94052128T>C GRCh37
NC_000007.12:g.93890064T>C NCBI36
NG_007405.1:g.33256T>C , LRG_2:g.33256T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2404-141T>C MANE Select ENSP00000297268.6:n.2404-141T>C
ENST00000297268.10:c.2404-141T>C ENSP00000297268.6:n.2404-141T>C
ENST00000481570.5:n.346T>C
ENST00000497316.5:n.801-141T>C
ENST00000620463.1:c.2398-141T>C ENSP00000477719.1:n.2398-141T>C
NM_000089.3:c.2404-141T>C , LRG_2t1:c.2404-141T>C NP_000080.2:n.2404-141T>C
NM_000089.4:c.2404-141T>C MANE Select NP_000080.2:n.2404-141T>C
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