Canonical Allele Identifier: CA2683766922
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401699del , CM000669.2:g.94401699del GRCh38
NC_000007.13:g.94031011del , CM000669.1:g.94031011del GRCh37
NC_000007.12:g.93868947del NCBI36
NG_007405.1:g.12139del , LRG_2:g.12139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+79del MANE Select ENSP00000297268.6:n.279+79del
ENST00000297268.10:c.279+79del ENSP00000297268.6:n.279+79del
ENST00000620463.1:c.273+79del ENSP00000477719.1:n.273+79del
NM_000089.3:c.279+79del , LRG_2t1:c.279+79del NP_000080.2:n.279+79del
NM_000089.4:c.279+79del MANE Select NP_000080.2:n.279+79del