Canonical Allele Identifier: CA2776990983

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404694_94404695insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC , CM000669.2:g.94404694_94404695insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC	GRCh38
NC_000007.13:g.94034006_94034007insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC , CM000669.1:g.94034006_94034007insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC	GRCh37
NC_000007.12:g.93871942_93871943insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC	NCBI36
NG_007405.1:g.15134_15135insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC , LRG_2:g.15134_15135insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC MANE Select	ENSP00000297268.6:p.Gly109_Pro110insLysGlnSerSerIleIleTrpAlaI...
ENST00000297268.10:c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC	ENSP00000297268.6:p.Gly109_Pro110insLysGlnSerSerIleIleTrpAlaI...
ENST00000620463.1:c.320_321insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC	ENSP00000477719.1:p.Gly107_Pro108insLysGlnSerSerIleIleTrpAlaI...
NM_000089.3:c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC , LRG_2t1:c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC	NP_000080.2:p.Gly109_Pro110insLysGlnSerSerIleIleTrpAlaIlePheS...
NM_000089.4:c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC MANE Select	NP_000080.2:p.Gly109_Pro110insLysGlnSerSerIleIleTrpAlaIlePheS...