Canonical Allele Identifier: CA456489674
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052424T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423112T>C , CM000669.2:g.94423112T>C GRCh38
NC_000007.13:g.94052424T>C , CM000669.1:g.94052424T>C GRCh37
NC_000007.12:g.93890360T>C NCBI36
NG_007405.1:g.33552T>C , LRG_2:g.33552T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2559T>C MANE Select ENSP00000297268.6:p.Gly853=
ENST00000297268.10:c.2559T>C ENSP00000297268.6:p.Gly853=
ENST00000481570.5:n.642T>C
ENST00000497316.5:n.956T>C
ENST00000620463.1:c.2553T>C ENSP00000477719.1:p.Gly851=
NM_000089.3:c.2559T>C , LRG_2t1:c.2559T>C NP_000080.2:p.Gly853=
NM_000089.4:c.2559T>C MANE Select NP_000080.2:p.Gly853=