Canonical Allele Identifier: CA2683773727
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426324del , CM000669.2:g.94426324del GRCh38
NC_000007.13:g.94055636del , CM000669.1:g.94055636del GRCh37
NC_000007.12:g.93893572del NCBI36
NG_007405.1:g.36764del , LRG_2:g.36764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-99del MANE Select ENSP00000297268.6:n.2998-99del
ENST00000297268.10:c.2998-99del ENSP00000297268.6:n.2998-99del
ENST00000478215.1:n.557-99del
ENST00000481570.5:n.2971-99del
ENST00000620463.1:c.2992-99del ENSP00000477719.1:n.2992-99del
NM_000089.3:c.2998-99del , LRG_2t1:c.2998-99del NP_000080.2:n.2998-99del
NM_000089.4:c.2998-99del MANE Select NP_000080.2:n.2998-99del