Canonical Allele Identifier: CA2683767076
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404524del , CM000669.2:g.94404524del GRCh38
NC_000007.13:g.94033836del , CM000669.1:g.94033836del GRCh37
NC_000007.12:g.93871772del NCBI36
NG_007405.1:g.14964del , LRG_2:g.14964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-32del MANE Select ENSP00000297268.6:n.280-32del
ENST00000297268.10:c.280-32del ENSP00000297268.6:n.280-32del
ENST00000620463.1:c.274-32del ENSP00000477719.1:n.274-32del
NM_000089.3:c.280-32del , LRG_2t1:c.280-32del NP_000080.2:n.280-32del
NM_000089.4:c.280-32del MANE Select NP_000080.2:n.280-32del