Canonical Allele Identifier: CA162940439

Gene: COL1A2

Linked Data

• dbSNP Id: rs746775385
• gnomAD v2: 7-94055901-GGATTTTC-G
• gnomAD v3: 7-94426589-GGATTTTC-G
• gnomAD v4: 7-94426589-GGATTTTC-G
• MyVariant Identifiers: chr7:g.94055902_94055908del (hg19) ; chr7:g.94426590_94426596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426590_94426596del , CM000669.2:g.94426590_94426596del	GRCh38
NC_000007.13:g.94055902_94055908del , CM000669.1:g.94055902_94055908del	GRCh37
NC_000007.12:g.93893838_93893844del	NCBI36
NG_007405.1:g.37030_37036del , LRG_2:g.37030_37036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+60_3105+66del MANE Select	ENSP00000297268.6:n.3105+60_3105+66del
ENST00000297268.10:c.3105+60_3105+66del	ENSP00000297268.6:n.3105+60_3105+66del
ENST00000478215.1:n.724_730del
ENST00000481570.5:n.3138_3144del
ENST00000488121.1:n.21+60_21+66del
ENST00000620463.1:c.3099+60_3099+66del	ENSP00000477719.1:n.3099+60_3099+66del
NM_000089.3:c.3105+60_3105+66del , LRG_2t1:c.3105+60_3105+66del	NP_000080.2:n.3105+60_3105+66del
NM_000089.4:c.3105+60_3105+66del MANE Select	NP_000080.2:n.3105+60_3105+66del