Canonical Allele Identifier: CA162937990
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2147883
ClinVar RCV Id: RCV003061127
dbSNP Id: rs990076088
gnomAD v2: 7-94052353-C-G
gnomAD v3: 7-94423041-C-G
gnomAD v4: 7-94423041-C-G
MyVariant Identifiers: chr7:g.94052353C>G (hg19) chr7:g.94423041C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423041C>G , CM000669.2:g.94423041C>G GRCh38
NC_000007.13:g.94052353C>G , CM000669.1:g.94052353C>G GRCh37
NC_000007.12:g.93890289C>G NCBI36
NG_007405.1:g.33481C>G , LRG_2:g.33481C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2488C>G MANE Select ENSP00000297268.6:p.Arg830Gly
ENST00000297268.10:c.2488C>G ENSP00000297268.6:p.Arg830Gly
ENST00000481570.5:n.571C>G
ENST00000497316.5:n.885C>G
ENST00000620463.1:c.2482C>G ENSP00000477719.1:p.Arg828Gly
NM_000089.3:c.2488C>G , LRG_2t1:c.2488C>G NP_000080.2:p.Arg830Gly
NM_000089.4:c.2488C>G MANE Select NP_000080.2:p.Arg830Gly
Search 100 bp 5'
Search 100 bp 3'