Canonical Allele Identifier: CA2683773687
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426201-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426201G>A , CM000669.2:g.94426201G>A GRCh38
NC_000007.13:g.94055513G>A , CM000669.1:g.94055513G>A GRCh37
NC_000007.12:g.93893449G>A NCBI36
NG_007405.1:g.36641G>A , LRG_2:g.36641G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2997+150G>A MANE Select ENSP00000297268.6:n.2997+150G>A
ENST00000297268.10:c.2997+150G>A ENSP00000297268.6:n.2997+150G>A
ENST00000478215.1:n.556+150G>A
ENST00000481570.5:n.2970+150G>A
ENST00000620463.1:c.2991+150G>A ENSP00000477719.1:n.2991+150G>A
NM_000089.3:c.2997+150G>A , LRG_2t1:c.2997+150G>A NP_000080.2:n.2997+150G>A
NM_000089.4:c.2997+150G>A MANE Select NP_000080.2:n.2997+150G>A
Search 100 bp 5'
Search 100 bp 3'