Canonical Allele Identifier: CA2578941452

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401529-TTATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401540_94401543del , CM000669.2:g.94401540_94401543del	GRCh38
NC_000007.13:g.94030852_94030855del , CM000669.1:g.94030852_94030855del	GRCh37
NC_000007.12:g.93868788_93868791del	NCBI36
NG_007405.1:g.11980_11983del , LRG_2:g.11980_11983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-27_226-24del MANE Select	ENSP00000297268.6:n.226-27_226-24del
ENST00000297268.10:c.226-27_226-24del	ENSP00000297268.6:n.226-27_226-24del
ENST00000620463.1:c.220-27_220-24del	ENSP00000477719.1:n.220-27_220-24del
NM_000089.3:c.226-27_226-24del , LRG_2t1:c.226-27_226-24del	NP_000080.2:n.226-27_226-24del
NM_000089.4:c.226-27_226-24del MANE Select	NP_000080.2:n.226-27_226-24del