Canonical Allele Identifier: CA2683771991
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94422748-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422748T>G , CM000669.2:g.94422748T>G GRCh38
NC_000007.13:g.94052060T>G , CM000669.1:g.94052060T>G GRCh37
NC_000007.12:g.93889996T>G NCBI36
NG_007405.1:g.33188T>G , LRG_2:g.33188T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-209T>G MANE Select ENSP00000297268.6:n.2404-209T>G
ENST00000297268.10:c.2404-209T>G ENSP00000297268.6:n.2404-209T>G
ENST00000481570.5:n.278T>G
ENST00000497316.5:n.801-209T>G
ENST00000620463.1:c.2398-209T>G ENSP00000477719.1:n.2398-209T>G
NM_000089.3:c.2404-209T>G , LRG_2t1:c.2404-209T>G NP_000080.2:n.2404-209T>G
NM_000089.4:c.2404-209T>G MANE Select NP_000080.2:n.2404-209T>G
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