Canonical Allele Identifier: CA2683766888
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94401666-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401666C>A , CM000669.2:g.94401666C>A GRCh38
NC_000007.13:g.94030978C>A , CM000669.1:g.94030978C>A GRCh37
NC_000007.12:g.93868914C>A NCBI36
NG_007405.1:g.12106C>A , LRG_2:g.12106C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+46C>A MANE Select ENSP00000297268.6:n.279+46C>A
ENST00000297268.10:c.279+46C>A ENSP00000297268.6:n.279+46C>A
ENST00000620463.1:c.273+46C>A ENSP00000477719.1:n.273+46C>A
NM_000089.3:c.279+46C>A , LRG_2t1:c.279+46C>A NP_000080.2:n.279+46C>A
NM_000089.4:c.279+46C>A MANE Select NP_000080.2:n.279+46C>A