Canonical Allele Identifier: CA2683773804

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426580-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426581dup , CM000669.2:g.94426581dup	GRCh38
NC_000007.13:g.94055893dup , CM000669.1:g.94055893dup	GRCh37
NC_000007.12:g.93893829dup	NCBI36
NG_007405.1:g.37021dup , LRG_2:g.37021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+51dup MANE Select	ENSP00000297268.6:n.3105+51dup
ENST00000297268.10:c.3105+51dup	ENSP00000297268.6:n.3105+51dup
ENST00000478215.1:n.715dup
ENST00000481570.5:n.3129dup
ENST00000488121.1:n.21+51dup
ENST00000620463.1:c.3099+51dup	ENSP00000477719.1:n.3099+51dup
NM_000089.3:c.3105+51dup , LRG_2t1:c.3105+51dup	NP_000080.2:n.3105+51dup
NM_000089.4:c.3105+51dup MANE Select	NP_000080.2:n.3105+51dup