Canonical Allele Identifier: CA1726776127
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422791T= , CM000669.2:g.94422791T= GRCh38
NC_000007.13:g.94052103T= , CM000669.1:g.94052103T= GRCh37
NC_000007.12:g.93890039T= NCBI36
NG_007405.1:g.33231T= , LRG_2:g.33231T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-166T= MANE Select ENSP00000297268.6:n.2404-166T=
ENST00000297268.10:c.2404-166T= ENSP00000297268.6:n.2404-166T=
ENST00000481570.5:n.321T=
ENST00000497316.5:n.801-166T=
ENST00000620463.1:c.2398-166T= ENSP00000477719.1:n.2398-166T=
NM_000089.3:c.2404-166T= , LRG_2t1:c.2404-166T= NP_000080.2:n.2404-166T=
NM_000089.4:c.2404-166T= MANE Select NP_000080.2:n.2404-166T=