Canonical Allele Identifier: CA2683766841

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401559-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401563_94401564del , CM000669.2:g.94401563_94401564del	GRCh38
NC_000007.13:g.94030875_94030876del , CM000669.1:g.94030875_94030876del	GRCh37
NC_000007.12:g.93868811_93868812del	NCBI36
NG_007405.1:g.12003_12004del , LRG_2:g.12003_12004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-4_226-3del MANE Select	ENSP00000297268.6:n.226-4_226-3del
ENST00000297268.10:c.226-4_226-3del	ENSP00000297268.6:n.226-4_226-3del
ENST00000620463.1:c.220-4_220-3del	ENSP00000477719.1:n.220-4_220-3del
NM_000089.3:c.226-4_226-3del , LRG_2t1:c.226-4_226-3del	NP_000080.2:n.226-4_226-3del
NM_000089.4:c.226-4_226-3del MANE Select	NP_000080.2:n.226-4_226-3del