Canonical Allele Identifier: CA2683773784
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927238
ClinVar RCV Id: RCV003781428
gnomAD v4: 7-94426546-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426546C>A , CM000669.2:g.94426546C>A GRCh38
NC_000007.13:g.94055858C>A , CM000669.1:g.94055858C>A GRCh37
NC_000007.12:g.93893794C>A NCBI36
NG_007405.1:g.36986C>A , LRG_2:g.36986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+16C>A MANE Select ENSP00000297268.6:n.3105+16C>A
ENST00000297268.10:c.3105+16C>A ENSP00000297268.6:n.3105+16C>A
ENST00000478215.1:n.680C>A
ENST00000481570.5:n.3094C>A
ENST00000488121.1:n.21+16C>A
ENST00000620463.1:c.3099+16C>A ENSP00000477719.1:n.3099+16C>A
NM_000089.3:c.3105+16C>A , LRG_2t1:c.3105+16C>A NP_000080.2:n.3105+16C>A
NM_000089.4:c.3105+16C>A MANE Select NP_000080.2:n.3105+16C>A