Canonical Allele Identifier: CA2776986536

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423108_94423109insACAT , CM000669.2:g.94423108_94423109insACAT	GRCh38
NC_000007.13:g.94052420_94052421insACAT , CM000669.1:g.94052420_94052421insACAT	GRCh37
NC_000007.12:g.93890356_93890357insACAT	NCBI36
NG_007405.1:g.33548_33549insACAT , LRG_2:g.33548_33549insACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2555_2556insACAT MANE Select	ENSP00000297268.6:p.Gly853HisfsTer30
ENST00000297268.10:c.2555_2556insACAT	ENSP00000297268.6:p.Gly853HisfsTer30
ENST00000481570.5:n.638_639insACAT
ENST00000497316.5:n.952_953insACAT
ENST00000620463.1:c.2549_2550insACAT	ENSP00000477719.1:p.Gly851HisfsTer30
NM_000089.3:c.2555_2556insACAT , LRG_2t1:c.2555_2556insACAT	NP_000080.2:p.Gly853HisfsTer30
NM_000089.4:c.2555_2556insACAT MANE Select	NP_000080.2:p.Gly853HisfsTer30