Canonical Allele Identifier: CA2683768025

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94408716-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94408720del , CM000669.2:g.94408720del	GRCh38
NC_000007.13:g.94038032del , CM000669.1:g.94038032del	GRCh37
NC_000007.12:g.93875968del	NCBI36
NG_007405.1:g.19160del , LRG_2:g.19160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.739-50del MANE Select	ENSP00000297268.6:n.739-50del
ENST00000297268.10:c.739-50del	ENSP00000297268.6:n.739-50del
ENST00000620463.1:c.733-50del	ENSP00000477719.1:n.733-50del
NM_000089.3:c.739-50del , LRG_2t1:c.739-50del	NP_000080.2:n.739-50del
NM_000089.4:c.739-50del MANE Select	NP_000080.2:n.739-50del