Canonical Allele Identifier: CA162902933

Gene: COL1A2 COL1A2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94395820_94395821del , CM000669.2:g.94395820_94395821del	GRCh38
NC_000007.13:g.94025132_94025133del , CM000669.1:g.94025132_94025133del	GRCh37
NC_000007.12:g.93863068_93863069del	NCBI36
NG_007405.1:g.6260_6261del , LRG_2:g.6260_6261del

Transcript Alleles

HGVS	Amino-acid Change
NM_000089.4:c.70+719_70+720del (COL1A2) MANE Select	NP_000080.2:n.70+719_70+720del
ENST00000297268.11:c.70+719_70+720del (COL1A2) MANE Select	ENSP00000297268.6:n.70+719_70+720del
NM_000089.3:c.70+719_70+720del , LRG_2t1:c.70+719_70+720del (COL1A2)	NP_000080.2:n.70+719_70+720del
ENST00000297268.10:c.70+719_70+720del (COL1A2)	ENSP00000297268.6:n.70+719_70+720del
ENST00000620463.1:c.70+719_70+720del (COL1A2)	ENSP00000477719.1:n.70+719_70+720del
XR_927753.1:n.1915_1916del (COL1A2-AS1)
XR_927754.1:n.1192-191_1192-190del (COL1A2-AS1)
XR_927755.1:n.1915_1916del (COL1A2-AS1)