Canonical Allele Identifier: CA1104605125

Gene: COL1A2

Linked Data

• dbSNP Id: rs1791752954
• gnomAD v3: 7-94404486-A-AT
• gnomAD v4: 7-94404486-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404487dup , CM000669.2:g.94404487dup	GRCh38
NC_000007.13:g.94033799dup , CM000669.1:g.94033799dup	GRCh37
NC_000007.12:g.93871735dup	NCBI36
NG_007405.1:g.14927dup , LRG_2:g.14927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-69dup MANE Select	ENSP00000297268.6:n.280-69dup
ENST00000297268.10:c.280-69dup	ENSP00000297268.6:n.280-69dup
ENST00000620463.1:c.274-69dup	ENSP00000477719.1:n.274-69dup
NM_000089.3:c.280-69dup , LRG_2t1:c.280-69dup	NP_000080.2:n.280-69dup
NM_000089.4:c.280-69dup MANE Select	NP_000080.2:n.280-69dup