Canonical Allele Identifier: CA2776986550

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423173_94423174insAAACACA , CM000669.2:g.94423173_94423174insAAACACA	GRCh38
NC_000007.13:g.94052485_94052486insAAACACA , CM000669.1:g.94052485_94052486insAAACACA	GRCh37
NC_000007.12:g.93890421_93890422insAAACACA	NCBI36
NG_007405.1:g.33613_33614insAAACACA , LRG_2:g.33613_33614insAAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565+55_2565+56insAAACACA MANE Select	ENSP00000297268.6:n.2565+55_2565+56insAAACACA
ENST00000297268.10:c.2565+55_2565+56insAAACACA	ENSP00000297268.6:n.2565+55_2565+56insAAACACA
ENST00000481570.5:n.703_704insAAACACA
ENST00000620463.1:c.2559+55_2559+56insAAACACA	ENSP00000477719.1:n.2559+55_2559+56insAAACACA
NM_000089.3:c.2565+55_2565+56insAAACACA , LRG_2t1:c.2565+55_2565+56insAAACACA	NP_000080.2:n.2565+55_2565+56insAAACACA
NM_000089.4:c.2565+55_2565+56insAAACACA MANE Select	NP_000080.2:n.2565+55_2565+56insAAACACA