Canonical Allele Identifier: CA1726792121
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404531G= , CM000669.2:g.94404531G= GRCh38
NC_000007.13:g.94033843G= , CM000669.1:g.94033843G= GRCh37
NC_000007.12:g.93871779G= NCBI36
NG_007405.1:g.14971G= , LRG_2:g.14971G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-25G= MANE Select ENSP00000297268.6:n.280-25G=
ENST00000297268.10:c.280-25G= ENSP00000297268.6:n.280-25G=
ENST00000620463.1:c.274-25G= ENSP00000477719.1:n.274-25G=
NM_000089.3:c.280-25G= , LRG_2t1:c.280-25G= NP_000080.2:n.280-25G=
NM_000089.4:c.280-25G= MANE Select NP_000080.2:n.280-25G=