Canonical Allele Identifier: CA843996769

Gene: COL1A2

Linked Data

• dbSNP Id: rs1310220748
• MyVariant Identifiers: chr7:g.94030548del (hg19) ; chr7:g.94401236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401237del , CM000669.2:g.94401237del	GRCh38
NC_000007.13:g.94030549del , CM000669.1:g.94030549del	GRCh37
NC_000007.12:g.93868485del	NCBI36
NG_007405.1:g.11677del , LRG_2:g.11677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-330del MANE Select	ENSP00000297268.6:n.226-330del
ENST00000297268.10:c.226-330del	ENSP00000297268.6:n.226-330del
ENST00000620463.1:c.220-330del	ENSP00000477719.1:n.220-330del
NM_000089.3:c.226-330del , LRG_2t1:c.226-330del	NP_000080.2:n.226-330del
NM_000089.4:c.226-330del MANE Select	NP_000080.2:n.226-330del