Canonical Allele Identifier: CA1726792133
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404549T= , CM000669.2:g.94404549T= GRCh38
NC_000007.13:g.94033861T= , CM000669.1:g.94033861T= GRCh37
NC_000007.12:g.93871797T= NCBI36
NG_007405.1:g.14989T= , LRG_2:g.14989T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.280-7T= MANE Select ENSP00000297268.6:n.280-7T=
ENST00000297268.10:c.280-7T= ENSP00000297268.6:n.280-7T=
ENST00000620463.1:c.274-7T= ENSP00000477719.1:n.274-7T=
NM_000089.3:c.280-7T= , LRG_2t1:c.280-7T= NP_000080.2:n.280-7T=
NM_000089.4:c.280-7T= MANE Select NP_000080.2:n.280-7T=