Canonical Allele Identifier: CA2683773825

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426612-T-TACTGGAACAATAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426612_94426613insACTGGAACAATAGCAG , CM000669.2:g.94426612_94426613insACTGGAACAATAGCAG	GRCh38
NC_000007.13:g.94055924_94055925insACTGGAACAATAGCAG , CM000669.1:g.94055924_94055925insACTGGAACAATAGCAG	GRCh37
NC_000007.12:g.93893860_93893861insACTGGAACAATAGCAG	NCBI36
NG_007405.1:g.37052_37053insACTGGAACAATAGCAG , LRG_2:g.37052_37053insACTGGAACAATAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+82_3105+83insACTGGAACAATAGCAG MANE Select	ENSP00000297268.6:n.3105+82_3105+83insACTGGAACAATAGCAG
ENST00000297268.10:c.3105+82_3105+83insACTGGAACAATAGCAG	ENSP00000297268.6:n.3105+82_3105+83insACTGGAACAATAGCAG
ENST00000478215.1:n.746_747insACTGGAACAATAGCAG
ENST00000481570.5:n.3160_3161insACTGGAACAATAGCAG
ENST00000488121.1:n.21+82_21+83insACTGGAACAATAGCAG
ENST00000620463.1:c.3099+82_3099+83insACTGGAACAATAGCAG	ENSP00000477719.1:n.3099+82_3099+83insACTGGAACAATAGCAG
NM_000089.3:c.3105+82_3105+83insACTGGAACAATAGCAG , LRG_2t1:c.3105+82_3105+83insACTGGAACAATAGCAG	NP_000080.2:n.3105+82_3105+83insACTGGAACAATAGCAG
NM_000089.4:c.3105+82_3105+83insACTGGAACAATAGCAG MANE Select	NP_000080.2:n.3105+82_3105+83insACTGGAACAATAGCAG