Canonical Allele Identifier: CA368223915
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2933905
ClinVar RCV Id: RCV003793463
dbSNP Id: rs1792199255
gnomAD v4: 7-94422982-C-G
MyVariant Identifiers: chr7:g.94052294C>G (hg19) chr7:g.94422982C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422982C>G , CM000669.2:g.94422982C>G GRCh38
NC_000007.13:g.94052294C>G , CM000669.1:g.94052294C>G GRCh37
NC_000007.12:g.93890230C>G NCBI36
NG_007405.1:g.33422C>G , LRG_2:g.33422C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2429C>G MANE Select ENSP00000297268.6:p.Pro810Arg
ENST00000297268.10:c.2429C>G ENSP00000297268.6:p.Pro810Arg
ENST00000481570.5:n.512C>G
ENST00000497316.5:n.826C>G
ENST00000620463.1:c.2423C>G ENSP00000477719.1:p.Pro808Arg
NM_000089.3:c.2429C>G , LRG_2t1:c.2429C>G NP_000080.2:p.Pro810Arg
NM_000089.4:c.2429C>G MANE Select NP_000080.2:p.Pro810Arg
Search 100 bp 5'
Search 100 bp 3'