Canonical Allele Identifier: CA1104599242

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792274644
• gnomAD v3: 7-94426211-ATCTCT-A
• gnomAD v4: 7-94426211-ATCTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426213_94426217del , CM000669.2:g.94426213_94426217del	GRCh38
NC_000007.13:g.94055525_94055529del , CM000669.1:g.94055525_94055529del	GRCh37
NC_000007.12:g.93893461_93893465del	NCBI36
NG_007405.1:g.36653_36657del , LRG_2:g.36653_36657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+162_2997+166del MANE Select	ENSP00000297268.6:n.2997+162_2997+166del
ENST00000297268.10:c.2997+162_2997+166del	ENSP00000297268.6:n.2997+162_2997+166del
ENST00000478215.1:n.556+162_556+166del
ENST00000481570.5:n.2970+162_2970+166del
ENST00000620463.1:c.2991+162_2991+166del	ENSP00000477719.1:n.2991+162_2991+166del
NM_000089.3:c.2997+162_2997+166del , LRG_2t1:c.2997+162_2997+166del	NP_000080.2:n.2997+162_2997+166del
NM_000089.4:c.2997+162_2997+166del MANE Select	NP_000080.2:n.2997+162_2997+166del