Canonical Allele Identifier: CA844000815

Gene: COL1A2

Linked Data

• dbSNP Id: rs1399851454
• MyVariant Identifiers: chr7:g.94052139del (hg19) ; chr7:g.94422827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422831del , CM000669.2:g.94422831del	GRCh38
NC_000007.13:g.94052143del , CM000669.1:g.94052143del	GRCh37
NC_000007.12:g.93890079del	NCBI36
NG_007405.1:g.33271del , LRG_2:g.33271del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2404-126del MANE Select	ENSP00000297268.6:n.2404-126del
ENST00000297268.10:c.2404-126del	ENSP00000297268.6:n.2404-126del
ENST00000481570.5:n.361del
ENST00000497316.5:n.801-126del
ENST00000620463.1:c.2398-126del	ENSP00000477719.1:n.2398-126del
NM_000089.3:c.2404-126del , LRG_2t1:c.2404-126del	NP_000080.2:n.2404-126del
NM_000089.4:c.2404-126del MANE Select	NP_000080.2:n.2404-126del