Canonical Allele Identifier: CA2683773811

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426590-G-GATTTTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426598_94426605dup , CM000669.2:g.94426598_94426605dup	GRCh38
NC_000007.13:g.94055910_94055917dup , CM000669.1:g.94055910_94055917dup	GRCh37
NC_000007.12:g.93893846_93893853dup	NCBI36
NG_007405.1:g.37038_37045dup , LRG_2:g.37038_37045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+68_3105+75dup MANE Select	ENSP00000297268.6:n.3105+68_3105+75dup
ENST00000297268.10:c.3105+68_3105+75dup	ENSP00000297268.6:n.3105+68_3105+75dup
ENST00000478215.1:n.732_739dup
ENST00000481570.5:n.3146_3153dup
ENST00000488121.1:n.21+68_21+75dup
ENST00000620463.1:c.3099+68_3099+75dup	ENSP00000477719.1:n.3099+68_3099+75dup
NM_000089.3:c.3105+68_3105+75dup , LRG_2t1:c.3105+68_3105+75dup	NP_000080.2:n.3105+68_3105+75dup
NM_000089.4:c.3105+68_3105+75dup MANE Select	NP_000080.2:n.3105+68_3105+75dup