Canonical Allele Identifier: CA1104599243

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792275159
• gnomAD v3: 7-94426218-ATGCTTGTT-A
• gnomAD v4: 7-94426218-ATGCTTGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426221_94426228del , CM000669.2:g.94426221_94426228del	GRCh38
NC_000007.13:g.94055533_94055540del , CM000669.1:g.94055533_94055540del	GRCh37
NC_000007.12:g.93893469_93893476del	NCBI36
NG_007405.1:g.36661_36668del , LRG_2:g.36661_36668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+170_2997+177del MANE Select	ENSP00000297268.6:n.2997+170_2997+177del
ENST00000297268.10:c.2997+170_2997+177del	ENSP00000297268.6:n.2997+170_2997+177del
ENST00000478215.1:n.556+170_556+177del
ENST00000481570.5:n.2970+170_2970+177del
ENST00000620463.1:c.2991+170_2991+177del	ENSP00000477719.1:n.2991+170_2991+177del
NM_000089.3:c.2997+170_2997+177del , LRG_2t1:c.2997+170_2997+177del	NP_000080.2:n.2997+170_2997+177del
NM_000089.4:c.2997+170_2997+177del MANE Select	NP_000080.2:n.2997+170_2997+177del