Canonical Allele Identifier: CA2580078015
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1969372
ClinVar RCV Id: RCV002717159
gnomAD v4: 7-94415277-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415277G>A , CM000669.2:g.94415277G>A GRCh38
NC_000007.13:g.94044589G>A , CM000669.1:g.94044589G>A GRCh37
NC_000007.12:g.93882525G>A NCBI36
NG_007405.1:g.25717G>A , LRG_2:g.25717G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1764+7G>A MANE Select ENSP00000297268.6:n.1764+7G>A
ENST00000297268.10:c.1764+7G>A ENSP00000297268.6:n.1764+7G>A
ENST00000473573.5:n.101+7G>A
ENST00000488298.5:n.188+7G>A
ENST00000620463.1:c.1758+7G>A ENSP00000477719.1:n.1758+7G>A
NM_000089.3:c.1764+7G>A , LRG_2t1:c.1764+7G>A NP_000080.2:n.1764+7G>A
NM_000089.4:c.1764+7G>A MANE Select NP_000080.2:n.1764+7G>A
Search 100 bp 5'
Search 100 bp 3'