Canonical Allele Identifier: CA2683769665
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94415180-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415180A>C , CM000669.2:g.94415180A>C GRCh38
NC_000007.13:g.94044492A>C , CM000669.1:g.94044492A>C GRCh37
NC_000007.12:g.93882428A>C NCBI36
NG_007405.1:g.25620A>C , LRG_2:g.25620A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1720-46A>C MANE Select ENSP00000297268.6:n.1720-46A>C
ENST00000297268.10:c.1720-46A>C ENSP00000297268.6:n.1720-46A>C
ENST00000473573.5:n.57-46A>C
ENST00000488298.5:n.144-46A>C
ENST00000620463.1:c.1714-46A>C ENSP00000477719.1:n.1714-46A>C
NM_000089.3:c.1720-46A>C , LRG_2t1:c.1720-46A>C NP_000080.2:n.1720-46A>C
NM_000089.4:c.1720-46A>C MANE Select NP_000080.2:n.1720-46A>C
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