Canonical Allele Identifier: CA1726783065
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426404T= , CM000669.2:g.94426404T= GRCh38
NC_000007.13:g.94055716T= , CM000669.1:g.94055716T= GRCh37
NC_000007.12:g.93893652T= NCBI36
NG_007405.1:g.36844T= , LRG_2:g.36844T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-19T= MANE Select ENSP00000297268.6:n.2998-19T=
ENST00000297268.10:c.2998-19T= ENSP00000297268.6:n.2998-19T=
ENST00000478215.1:n.557-19T=
ENST00000481570.5:n.2971-19T=
ENST00000620463.1:c.2992-19T= ENSP00000477719.1:n.2992-19T=
NM_000089.3:c.2998-19T= , LRG_2t1:c.2998-19T= NP_000080.2:n.2998-19T=
NM_000089.4:c.2998-19T= MANE Select NP_000080.2:n.2998-19T=