Canonical Allele Identifier: CA915945372
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 639342
ClinVar RCV Id: RCV002233827
dbSNP Id: rs1584328061
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423121_94423124del , CM000669.2:g.94423121_94423124del GRCh38
NC_000007.13:g.94052433_94052436del , CM000669.1:g.94052433_94052436del GRCh37
NC_000007.12:g.93890369_93890372del NCBI36
NG_007405.1:g.33561_33564del , LRG_2:g.33561_33564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+3_2565+6del MANE Select ENSP00000297268.6:n.2565+3_2565+6del
ENST00000297268.10:c.2565+3_2565+6del ENSP00000297268.6:n.2565+3_2565+6del
ENST00000481570.5:n.651_654del
ENST00000620463.1:c.2559+3_2559+6del ENSP00000477719.1:n.2559+3_2559+6del
NM_000089.3:c.2565+3_2565+6del , LRG_2t1:c.2565+3_2565+6del NP_000080.2:n.2565+3_2565+6del
NM_000089.4:c.2565+3_2565+6del MANE Select NP_000080.2:n.2565+3_2565+6del
Search 100 bp 5'
Search 100 bp 3'