Canonical Allele Identifier: CA4347468

Gene: COL1A2

Linked Data

• dbSNP Id: rs775294345
• ExAC: 7:94052384 C / CTGG
• gnomAD v2: 7-94052384-C-CTGG
• gnomAD v3: 7-94423072-C-CTGG
• gnomAD v4: 7-94423072-C-CTGG
• MyVariant Identifiers: chr7:g.94052384_94052385insTGG (hg19) ; chr7:g.94423072_94423073insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423073_94423075dup , CM000669.2:g.94423073_94423075dup	GRCh38
NC_000007.13:g.94052385_94052387dup , CM000669.1:g.94052385_94052387dup	GRCh37
NC_000007.12:g.93890321_93890323dup	NCBI36
NG_007405.1:g.33513_33515dup , LRG_2:g.33513_33515dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2520_2522dup MANE Select	ENSP00000297268.6:p.Gly841_Phe842insGly
ENST00000297268.10:c.2520_2522dup	ENSP00000297268.6:p.Gly841_Phe842insGly
ENST00000481570.5:n.603_605dup
ENST00000497316.5:n.917_919dup
ENST00000620463.1:c.2514_2516dup	ENSP00000477719.1:p.Gly839_Phe840insGly
NM_000089.3:c.2520_2522dup , LRG_2t1:c.2520_2522dup	NP_000080.2:p.Gly841_Phe842insGly
NM_000089.4:c.2520_2522dup MANE Select	NP_000080.2:p.Gly841_Phe842insGly