Canonical Allele Identifier: CA456489569
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2586618
ClinVar RCV Id: RCV003358378
dbSNP Id: rs1562906019
gnomAD v4: 7-94422980-C-T
MyVariant Identifiers: chr7:g.94052292C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422980C>T , CM000669.2:g.94422980C>T GRCh38
NC_000007.13:g.94052292C>T , CM000669.1:g.94052292C>T GRCh37
NC_000007.12:g.93890228C>T NCBI36
NG_007405.1:g.33420C>T , LRG_2:g.33420C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2427C>T MANE Select ENSP00000297268.6:p.Pro809=
ENST00000297268.10:c.2427C>T ENSP00000297268.6:p.Pro809=
ENST00000481570.5:n.510C>T
ENST00000497316.5:n.824C>T
ENST00000620463.1:c.2421C>T ENSP00000477719.1:p.Pro807=
NM_000089.3:c.2427C>T , LRG_2t1:c.2427C>T NP_000080.2:p.Pro809=
NM_000089.4:c.2427C>T MANE Select NP_000080.2:p.Pro809=
Search 100 bp 5'
Search 100 bp 3'