Canonical Allele Identifier: CA4347480
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2053715
ClinVar RCV Id: RCV002922720
dbSNP Id: rs748151872
ExAC: 7:94052445 A / G
gnomAD v2: 7-94052445-A-G
gnomAD v3: 7-94423133-A-G
gnomAD v4: 7-94423133-A-G
MyVariant Identifiers: chr7:g.94052445A>G (hg19) chr7:g.94423133A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423133A>G , CM000669.2:g.94423133A>G GRCh38
NC_000007.13:g.94052445A>G , CM000669.1:g.94052445A>G GRCh37
NC_000007.12:g.93890381A>G NCBI36
NG_007405.1:g.33573A>G , LRG_2:g.33573A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+15A>G MANE Select ENSP00000297268.6:n.2565+15A>G
ENST00000297268.10:c.2565+15A>G ENSP00000297268.6:n.2565+15A>G
ENST00000481570.5:n.663A>G
ENST00000620463.1:c.2559+15A>G ENSP00000477719.1:n.2559+15A>G
NM_000089.3:c.2565+15A>G , LRG_2t1:c.2565+15A>G NP_000080.2:n.2565+15A>G
NM_000089.4:c.2565+15A>G MANE Select NP_000080.2:n.2565+15A>G
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