Canonical Allele Identifier: CA2683770336

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94417793-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94417797del , CM000669.2:g.94417797del	GRCh38
NC_000007.13:g.94047109del , CM000669.1:g.94047109del	GRCh37
NC_000007.12:g.93885045del	NCBI36
NG_007405.1:g.28237del , LRG_2:g.28237del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1937del MANE Select	ENSP00000297268.6:p.Gly646ValfsTer?
ENST00000297268.10:c.1937del	ENSP00000297268.6:p.Gly646ValfsTer?
ENST00000461525.5:n.26del
ENST00000473573.5:n.274del
ENST00000497316.5:n.334del
ENST00000620463.1:c.1931del	ENSP00000477719.1:p.Gly644ValfsTer?
NM_000089.3:c.1937del , LRG_2t1:c.1937del	NP_000080.2:p.Gly646ValfsTer?
NM_000089.4:c.1937del MANE Select	NP_000080.2:p.Gly646ValfsTer?