Canonical Allele Identifier: CA2683766881
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401660del , CM000669.2:g.94401660del GRCh38
NC_000007.13:g.94030972del , CM000669.1:g.94030972del GRCh37
NC_000007.12:g.93868908del NCBI36
NG_007405.1:g.12100del , LRG_2:g.12100del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+40del MANE Select ENSP00000297268.6:n.279+40del
ENST00000297268.10:c.279+40del ENSP00000297268.6:n.279+40del
ENST00000620463.1:c.273+40del ENSP00000477719.1:n.273+40del
NM_000089.3:c.279+40del , LRG_2t1:c.279+40del NP_000080.2:n.279+40del
NM_000089.4:c.279+40del MANE Select NP_000080.2:n.279+40del