Canonical Allele Identifier: CA2683766769
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401524dup , CM000669.2:g.94401524dup GRCh38
NC_000007.13:g.94030836dup , CM000669.1:g.94030836dup GRCh37
NC_000007.12:g.93868772dup NCBI36
NG_007405.1:g.11964dup , LRG_2:g.11964dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-43dup MANE Select ENSP00000297268.6:n.226-43dup
ENST00000297268.10:c.226-43dup ENSP00000297268.6:n.226-43dup
ENST00000620463.1:c.220-43dup ENSP00000477719.1:n.220-43dup
NM_000089.3:c.226-43dup , LRG_2t1:c.226-43dup NP_000080.2:n.226-43dup
NM_000089.4:c.226-43dup MANE Select NP_000080.2:n.226-43dup