Canonical Allele Identifier: CA2683773750

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426376-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426383del , CM000669.2:g.94426383del	GRCh38
NC_000007.13:g.94055695del , CM000669.1:g.94055695del	GRCh37
NC_000007.12:g.93893631del	NCBI36
NG_007405.1:g.36823del , LRG_2:g.36823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-40del MANE Select	ENSP00000297268.6:n.2998-40del
ENST00000297268.10:c.2998-40del	ENSP00000297268.6:n.2998-40del
ENST00000478215.1:n.557-40del
ENST00000481570.5:n.2971-40del
ENST00000620463.1:c.2992-40del	ENSP00000477719.1:n.2992-40del
NM_000089.3:c.2998-40del , LRG_2t1:c.2998-40del	NP_000080.2:n.2998-40del
NM_000089.4:c.2998-40del MANE Select	NP_000080.2:n.2998-40del