Canonical Allele Identifier: CA2683773844
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426631del , CM000669.2:g.94426631del GRCh38
NC_000007.13:g.94055943del , CM000669.1:g.94055943del GRCh37
NC_000007.12:g.93893879del NCBI36
NG_007405.1:g.37071del , LRG_2:g.37071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+101del MANE Select ENSP00000297268.6:n.3105+101del
ENST00000297268.10:c.3105+101del ENSP00000297268.6:n.3105+101del
ENST00000478215.1:n.765del
ENST00000481570.5:n.3179del
ENST00000488121.1:n.21+101del
ENST00000620463.1:c.3099+101del ENSP00000477719.1:n.3099+101del
NM_000089.3:c.3105+101del , LRG_2t1:c.3105+101del NP_000080.2:n.3105+101del
NM_000089.4:c.3105+101del MANE Select NP_000080.2:n.3105+101del