Canonical Allele Identifier: CA645565820

Gene: COL1A2

Linked Data

• COSMIC: COSM5680945

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404578del , CM000669.2:g.94404578del	GRCh38
NC_000007.13:g.94033890del , CM000669.1:g.94033890del	GRCh37
NC_000007.12:g.93871826del	NCBI36
NG_007405.1:g.15018del , LRG_2:g.15018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.302del MANE Select	ENSP00000297268.6:p.Pro101HisfsTer?
ENST00000297268.10:c.302del	ENSP00000297268.6:p.Pro101HisfsTer?
ENST00000620463.1:c.296del	ENSP00000477719.1:p.Pro99HisfsTer?
NM_000089.3:c.302del , LRG_2t1:c.302del	NP_000080.2:p.Pro101HisfsTer?
NM_000089.4:c.302del MANE Select	NP_000080.2:p.Pro101HisfsTer?