Canonical Allele Identifier: CA576321545

Gene: COL1A2

Linked Data

• dbSNP Id: rs1231658482
• gnomAD v2: 7-94033857-TTTC-T
• MyVariant Identifiers: chr7:g.94033858_94033860del (hg19) ; chr7:g.94404546_94404548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404548_94404550del , CM000669.2:g.94404548_94404550del	GRCh38
NC_000007.13:g.94033860_94033862del , CM000669.1:g.94033860_94033862del	GRCh37
NC_000007.12:g.93871796_93871798del	NCBI36
NG_007405.1:g.14988_14990del , LRG_2:g.14988_14990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.280-8_280-6del MANE Select	ENSP00000297268.6:n.280-8_280-6del
ENST00000297268.10:c.280-8_280-6del	ENSP00000297268.6:n.280-8_280-6del
ENST00000620463.1:c.274-8_274-6del	ENSP00000477719.1:n.274-8_274-6del
NM_000089.3:c.280-8_280-6del , LRG_2t1:c.280-8_280-6del	NP_000080.2:n.280-8_280-6del
NM_000089.4:c.280-8_280-6del MANE Select	NP_000080.2:n.280-8_280-6del