Canonical Allele Identifier: CA2683771997
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422755dup , CM000669.2:g.94422755dup GRCh38
NC_000007.13:g.94052067dup , CM000669.1:g.94052067dup GRCh37
NC_000007.12:g.93890003dup NCBI36
NG_007405.1:g.33195dup , LRG_2:g.33195dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-202dup MANE Select ENSP00000297268.6:n.2404-202dup
ENST00000297268.10:c.2404-202dup ENSP00000297268.6:n.2404-202dup
ENST00000481570.5:n.285dup
ENST00000497316.5:n.801-202dup
ENST00000620463.1:c.2398-202dup ENSP00000477719.1:n.2398-202dup
NM_000089.3:c.2404-202dup , LRG_2t1:c.2404-202dup NP_000080.2:n.2404-202dup
NM_000089.4:c.2404-202dup MANE Select NP_000080.2:n.2404-202dup