Canonical Allele Identifier: CA2522035490
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1355160
ClinVar RCV Id: RCV001876423
dbSNP Id: rs2115874855
gnomAD v4: 7-94404547-TCTTTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404549_94404553del , CM000669.2:g.94404549_94404553del GRCh38
NC_000007.13:g.94033861_94033865del , CM000669.1:g.94033861_94033865del GRCh37
NC_000007.12:g.93871797_93871801del NCBI36
NG_007405.1:g.14989_14993del , LRG_2:g.14989_14993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-7_280-3del MANE Select ENSP00000297268.6:n.280-7_280-3del
ENST00000297268.10:c.280-7_280-3del ENSP00000297268.6:n.280-7_280-3del
ENST00000620463.1:c.274-7_274-3del ENSP00000477719.1:n.274-7_274-3del
NM_000089.3:c.280-7_280-3del , LRG_2t1:c.280-7_280-3del NP_000080.2:n.280-7_280-3del
NM_000089.4:c.280-7_280-3del MANE Select NP_000080.2:n.280-7_280-3del
Search 100 bp 5'
Search 100 bp 3'