Canonical Allele Identifier: CA2683773832

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426616-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426618del , CM000669.2:g.94426618del	GRCh38
NC_000007.13:g.94055930del , CM000669.1:g.94055930del	GRCh37
NC_000007.12:g.93893866del	NCBI36
NG_007405.1:g.37058del , LRG_2:g.37058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+88del MANE Select	ENSP00000297268.6:n.3105+88del
ENST00000297268.10:c.3105+88del	ENSP00000297268.6:n.3105+88del
ENST00000478215.1:n.752del
ENST00000481570.5:n.3166del
ENST00000488121.1:n.21+88del
ENST00000620463.1:c.3099+88del	ENSP00000477719.1:n.3099+88del
NM_000089.3:c.3105+88del , LRG_2t1:c.3105+88del	NP_000080.2:n.3105+88del
NM_000089.4:c.3105+88del MANE Select	NP_000080.2:n.3105+88del