Canonical Allele Identifier: CA2776991280
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401332del , CM000669.2:g.94401332del GRCh38
NC_000007.13:g.94030644del , CM000669.1:g.94030644del GRCh37
NC_000007.12:g.93868580del NCBI36
NG_007405.1:g.11772del , LRG_2:g.11772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-235del MANE Select ENSP00000297268.6:n.226-235del
ENST00000297268.10:c.226-235del ENSP00000297268.6:n.226-235del
ENST00000620463.1:c.220-235del ENSP00000477719.1:n.220-235del
NM_000089.3:c.226-235del , LRG_2t1:c.226-235del NP_000080.2:n.226-235del
NM_000089.4:c.226-235del MANE Select NP_000080.2:n.226-235del