Canonical Allele Identifier: CA2683772040

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94422801-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422803_94422804dup , CM000669.2:g.94422803_94422804dup	GRCh38
NC_000007.13:g.94052115_94052116dup , CM000669.1:g.94052115_94052116dup	GRCh37
NC_000007.12:g.93890051_93890052dup	NCBI36
NG_007405.1:g.33243_33244dup , LRG_2:g.33243_33244dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-154_2404-153dup MANE Select	ENSP00000297268.6:n.2404-154_2404-153dup
ENST00000297268.10:c.2404-154_2404-153dup	ENSP00000297268.6:n.2404-154_2404-153dup
ENST00000481570.5:n.333_334dup
ENST00000497316.5:n.801-154_801-153dup
ENST00000620463.1:c.2398-154_2398-153dup	ENSP00000477719.1:n.2398-154_2398-153dup
NM_000089.3:c.2404-154_2404-153dup , LRG_2t1:c.2404-154_2404-153dup	NP_000080.2:n.2404-154_2404-153dup
NM_000089.4:c.2404-154_2404-153dup MANE Select	NP_000080.2:n.2404-154_2404-153dup