Canonical Allele Identifier: CA1104598571
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1792228626
gnomAD v3: 7-94424272-C-G
gnomAD v4: 7-94424272-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94424272C>G , CM000669.2:g.94424272C>G GRCh38
NC_000007.13:g.94053584C>G , CM000669.1:g.94053584C>G GRCh37
NC_000007.12:g.93891520C>G NCBI36
NG_007405.1:g.34712C>G , LRG_2:g.34712C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2566-64C>G MANE Select ENSP00000297268.6:n.2566-64C>G
ENST00000297268.10:c.2566-64C>G ENSP00000297268.6:n.2566-64C>G
ENST00000469732.1:n.285C>G
ENST00000481570.5:n.1802C>G
ENST00000620463.1:c.2560-64C>G ENSP00000477719.1:n.2560-64C>G
NM_000089.3:c.2566-64C>G , LRG_2t1:c.2566-64C>G NP_000080.2:n.2566-64C>G
NM_000089.4:c.2566-64C>G MANE Select NP_000080.2:n.2566-64C>G
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