Canonical Allele Identifier: CA1104605220
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791761801
gnomAD v3: 7-94404786-A-G
gnomAD v4: 7-94404786-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404786A>G , CM000669.2:g.94404786A>G GRCh38
NC_000007.13:g.94034098A>G , CM000669.1:g.94034098A>G GRCh37
NC_000007.12:g.93872034A>G NCBI36
NG_007405.1:g.15226A>G , LRG_2:g.15226A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+40A>G MANE Select ENSP00000297268.6:n.378+40A>G
ENST00000297268.10:c.378+40A>G ENSP00000297268.6:n.378+40A>G
ENST00000620463.1:c.372+40A>G ENSP00000477719.1:n.372+40A>G
NM_000089.3:c.378+40A>G , LRG_2t1:c.378+40A>G NP_000080.2:n.378+40A>G
NM_000089.4:c.378+40A>G MANE Select NP_000080.2:n.378+40A>G
Search 100 bp 5'
Search 100 bp 3'