Canonical Allele Identifier: CA2683773682

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426196-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426198del , CM000669.2:g.94426198del	GRCh38
NC_000007.13:g.94055510del , CM000669.1:g.94055510del	GRCh37
NC_000007.12:g.93893446del	NCBI36
NG_007405.1:g.36638del , LRG_2:g.36638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+147del MANE Select	ENSP00000297268.6:n.2997+147del
ENST00000297268.10:c.2997+147del	ENSP00000297268.6:n.2997+147del
ENST00000478215.1:n.556+147del
ENST00000481570.5:n.2970+147del
ENST00000620463.1:c.2991+147del	ENSP00000477719.1:n.2991+147del
NM_000089.3:c.2997+147del , LRG_2t1:c.2997+147del	NP_000080.2:n.2997+147del
NM_000089.4:c.2997+147del MANE Select	NP_000080.2:n.2997+147del