Canonical Allele Identifier: CA1726777249
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423242T= , CM000669.2:g.94423242T= GRCh38
NC_000007.13:g.94052554T= , CM000669.1:g.94052554T= GRCh37
NC_000007.12:g.93890490T= NCBI36
NG_007405.1:g.33682T= , LRG_2:g.33682T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+124T= MANE Select ENSP00000297268.6:n.2565+124T=
ENST00000297268.10:c.2565+124T= ENSP00000297268.6:n.2565+124T=
ENST00000481570.5:n.772T=
ENST00000620463.1:c.2559+124T= ENSP00000477719.1:n.2559+124T=
NM_000089.3:c.2565+124T= , LRG_2t1:c.2565+124T= NP_000080.2:n.2565+124T=
NM_000089.4:c.2565+124T= MANE Select NP_000080.2:n.2565+124T=