Canonical Allele Identifier: CA1726777079
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423152T= , CM000669.2:g.94423152T= GRCh38
NC_000007.13:g.94052464T= , CM000669.1:g.94052464T= GRCh37
NC_000007.12:g.93890400T= NCBI36
NG_007405.1:g.33592T= , LRG_2:g.33592T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+34T= MANE Select ENSP00000297268.6:n.2565+34T=
ENST00000297268.10:c.2565+34T= ENSP00000297268.6:n.2565+34T=
ENST00000481570.5:n.682T=
ENST00000620463.1:c.2559+34T= ENSP00000477719.1:n.2559+34T=
NM_000089.3:c.2565+34T= , LRG_2t1:c.2565+34T= NP_000080.2:n.2565+34T=
NM_000089.4:c.2565+34T= MANE Select NP_000080.2:n.2565+34T=