Canonical Allele Identifier: CA1726776393
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422953A= , CM000669.2:g.94422953A= GRCh38
NC_000007.13:g.94052265A= , CM000669.1:g.94052265A= GRCh37
NC_000007.12:g.93890201A= NCBI36
NG_007405.1:g.33393A= , LRG_2:g.33393A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-4A= MANE Select ENSP00000297268.6:n.2404-4A=
ENST00000297268.10:c.2404-4A= ENSP00000297268.6:n.2404-4A=
ENST00000481570.5:n.483A=
ENST00000497316.5:n.801-4A=
ENST00000620463.1:c.2398-4A= ENSP00000477719.1:n.2398-4A=
NM_000089.3:c.2404-4A= , LRG_2t1:c.2404-4A= NP_000080.2:n.2404-4A=
NM_000089.4:c.2404-4A= MANE Select NP_000080.2:n.2404-4A=