Canonical Allele Identifier: CA2776991351

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401648_94401649insCACACCCAACAC , CM000669.2:g.94401648_94401649insCACACCCAACAC	GRCh38
NC_000007.13:g.94030960_94030961insCACACCCAACAC , CM000669.1:g.94030960_94030961insCACACCCAACAC	GRCh37
NC_000007.12:g.93868896_93868897insCACACCCAACAC	NCBI36
NG_007405.1:g.12088_12089insCACACCCAACAC , LRG_2:g.12088_12089insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+28_279+29insCACACCCAACAC MANE Select	ENSP00000297268.6:n.279+28_279+29insCACACCCAACAC
ENST00000297268.10:c.279+28_279+29insCACACCCAACAC	ENSP00000297268.6:n.279+28_279+29insCACACCCAACAC
ENST00000620463.1:c.273+28_273+29insCACACCCAACAC	ENSP00000477719.1:n.273+28_273+29insCACACCCAACAC
NM_000089.3:c.279+28_279+29insCACACCCAACAC , LRG_2t1:c.279+28_279+29insCACACCCAACAC	NP_000080.2:n.279+28_279+29insCACACCCAACAC
NM_000089.4:c.279+28_279+29insCACACCCAACAC MANE Select	NP_000080.2:n.279+28_279+29insCACACCCAACAC