Canonical Allele Identifier: CA260389
Gene: COL1A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35958
ClinVar RCV Id: RCV000029614
dbSNP Id: rs193922175

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409377_94409379del , CM000669.2:g.94409377_94409379del GRCh38
NC_000007.12:g.93876625_93876627del NCBI36
NC_000007.13:g.94038689_94038691del , CM000669.1:g.94038689_94038691del GRCh37
NG_007405.1:g.19817_19819del , LRG_2:g.19817_19819del

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.10:c.848_850del ENSP00000297268.6:p.Gly283del
ENST00000620463.1:c.842_844del ENSP00000477719.1:p.Gly281del
NM_000089.3:c.848_850del , LRG_2t1:c.848_850del NP_000080.2:p.Gly283del