Canonical Allele Identifier: CA2556302400
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404796_94404797insTAACA , CM000669.2:g.94404796_94404797insTAACA GRCh38
NC_000007.13:g.94034108_94034109insTAACA , CM000669.1:g.94034108_94034109insTAACA GRCh37
NC_000007.12:g.93872044_93872045insTAACA NCBI36
NG_007405.1:g.15236_15237insTAACA , LRG_2:g.15236_15237insTAACA

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.379-43_379-42insTAACA MANE Select ENSP00000297268.6:n.379-43_379-42insTAACA
ENST00000297268.10:c.379-43_379-42insTAACA ENSP00000297268.6:n.379-43_379-42insTAACA
ENST00000620463.1:c.373-43_373-42insTAACA ENSP00000477719.1:n.373-43_373-42insTAACA
NM_000089.3:c.379-43_379-42insTAACA , LRG_2t1:c.379-43_379-42insTAACA NP_000080.2:n.379-43_379-42insTAACA
NM_000089.4:c.379-43_379-42insTAACA MANE Select NP_000080.2:n.379-43_379-42insTAACA