Canonical Allele Identifier: CA844003405

Gene: COL1A2

Linked Data

• dbSNP Id: rs1344587778
• MyVariant Identifiers: chr7:g.94055524_94055536del (hg19) ; chr7:g.94426212_94426224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426213_94426225del , CM000669.2:g.94426213_94426225del	GRCh38
NC_000007.13:g.94055525_94055537del , CM000669.1:g.94055525_94055537del	GRCh37
NC_000007.12:g.93893461_93893473del	NCBI36
NG_007405.1:g.36653_36665del , LRG_2:g.36653_36665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+162_2997+174del MANE Select	ENSP00000297268.6:n.2997+162_2997+174del
ENST00000297268.10:c.2997+162_2997+174del	ENSP00000297268.6:n.2997+162_2997+174del
ENST00000478215.1:n.556+162_556+174del
ENST00000481570.5:n.2970+162_2970+174del
ENST00000620463.1:c.2991+162_2991+174del	ENSP00000477719.1:n.2991+162_2991+174del
NM_000089.3:c.2997+162_2997+174del , LRG_2t1:c.2997+162_2997+174del	NP_000080.2:n.2997+162_2997+174del
NM_000089.4:c.2997+162_2997+174del MANE Select	NP_000080.2:n.2997+162_2997+174del