Canonical Allele Identifier: CA1726777233

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423238_94423239delinsCA , CM000669.2:g.94423238_94423239delinsCA	GRCh38
NC_000007.13:g.94052550_94052551delinsCA , CM000669.1:g.94052550_94052551delinsCA	GRCh37
NC_000007.12:g.93890486_93890487delinsCA	NCBI36
NG_007405.1:g.33678_33679delinsCA , LRG_2:g.33678_33679delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565+120_2565+121delinsCA MANE Select	ENSP00000297268.6:n.2565+120_2565+121delinsCA
ENST00000297268.10:c.2565+120_2565+121delinsCA	ENSP00000297268.6:n.2565+120_2565+121delinsCA
ENST00000481570.5:n.768_769delinsCA
ENST00000620463.1:c.2559+120_2559+121delinsCA	ENSP00000477719.1:n.2559+120_2559+121delinsCA
NM_000089.3:c.2565+120_2565+121delinsCA , LRG_2t1:c.2565+120_2565+121delinsCA	NP_000080.2:n.2565+120_2565+121delinsCA
NM_000089.4:c.2565+120_2565+121delinsCA MANE Select	NP_000080.2:n.2565+120_2565+121delinsCA