Canonical Allele Identifier: CA1726776168
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1792194694
gnomAD v4: 7-94422817-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422817A>G , CM000669.2:g.94422817A>G GRCh38
NC_000007.13:g.94052129A>G , CM000669.1:g.94052129A>G GRCh37
NC_000007.12:g.93890065A>G NCBI36
NG_007405.1:g.33257A>G , LRG_2:g.33257A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2404-140A>G MANE Select ENSP00000297268.6:n.2404-140A>G
ENST00000297268.10:c.2404-140A>G ENSP00000297268.6:n.2404-140A>G
ENST00000481570.5:n.347A>G
ENST00000497316.5:n.801-140A>G
ENST00000620463.1:c.2398-140A>G ENSP00000477719.1:n.2398-140A>G
NM_000089.3:c.2404-140A>G , LRG_2t1:c.2404-140A>G NP_000080.2:n.2404-140A>G
NM_000089.4:c.2404-140A>G MANE Select NP_000080.2:n.2404-140A>G
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