Canonical Allele Identifier: CA1726792250
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404836T= , CM000669.2:g.94404836T= GRCh38
NC_000007.13:g.94034148T= , CM000669.1:g.94034148T= GRCh37
NC_000007.12:g.93872084T= NCBI36
NG_007405.1:g.15276T= , LRG_2:g.15276T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.379-3T= MANE Select ENSP00000297268.6:n.379-3T=
ENST00000297268.10:c.379-3T= ENSP00000297268.6:n.379-3T=
ENST00000620463.1:c.373-3T= ENSP00000477719.1:n.373-3T=
NM_000089.3:c.379-3T= , LRG_2t1:c.379-3T= NP_000080.2:n.379-3T=
NM_000089.4:c.379-3T= MANE Select NP_000080.2:n.379-3T=