Canonical Allele Identifier: CA2578941917
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94415168-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415168A>G , CM000669.2:g.94415168A>G GRCh38
NC_000007.13:g.94044480A>G , CM000669.1:g.94044480A>G GRCh37
NC_000007.12:g.93882416A>G NCBI36
NG_007405.1:g.25608A>G , LRG_2:g.25608A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1720-58A>G MANE Select ENSP00000297268.6:n.1720-58A>G
ENST00000297268.10:c.1720-58A>G ENSP00000297268.6:n.1720-58A>G
ENST00000473573.5:n.57-58A>G
ENST00000488298.5:n.144-58A>G
ENST00000620463.1:c.1714-58A>G ENSP00000477719.1:n.1714-58A>G
NM_000089.3:c.1720-58A>G , LRG_2t1:c.1720-58A>G NP_000080.2:n.1720-58A>G
NM_000089.4:c.1720-58A>G MANE Select NP_000080.2:n.1720-58A>G
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