Canonical Allele Identifier: CA576707138

Gene: COL1A2

Linked Data

• dbSNP Id: rs1379209987
• gnomAD v2: 7-94052401-A-AGGAC
• gnomAD v3: 7-94423089-A-AGGAC
• gnomAD v4: 7-94423089-A-AGGAC
• MyVariant Identifiers: chr7:g.94052401_94052402insGGAC (hg19) ; chr7:g.94423089_94423090insGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423089_94423090insGGAC , CM000669.2:g.94423089_94423090insGGAC	GRCh38
NC_000007.13:g.94052401_94052402insGGAC , CM000669.1:g.94052401_94052402insGGAC	GRCh37
NC_000007.12:g.93890337_93890338insGGAC	NCBI36
NG_007405.1:g.33529_33530insGGAC , LRG_2:g.33529_33530insGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2536_2537insGGAC MANE Select	ENSP00000297268.6:p.Lys846ArgfsTer?
ENST00000297268.10:c.2536_2537insGGAC	ENSP00000297268.6:p.Lys846ArgfsTer?
ENST00000481570.5:n.619_620insGGAC
ENST00000497316.5:n.933_934insGGAC
ENST00000620463.1:c.2530_2531insGGAC	ENSP00000477719.1:p.Lys844ArgfsTer?
NM_000089.3:c.2536_2537insGGAC , LRG_2t1:c.2536_2537insGGAC	NP_000080.2:p.Lys846ArgfsTer?
NM_000089.4:c.2536_2537insGGAC MANE Select	NP_000080.2:p.Lys846ArgfsTer?