Canonical Allele Identifier: CA456489635
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052370T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423058T>C , CM000669.2:g.94423058T>C GRCh38
NC_000007.13:g.94052370T>C , CM000669.1:g.94052370T>C GRCh37
NC_000007.12:g.93890306T>C NCBI36
NG_007405.1:g.33498T>C , LRG_2:g.33498T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2505T>C MANE Select ENSP00000297268.6:p.Gly835=
ENST00000297268.10:c.2505T>C ENSP00000297268.6:p.Gly835=
ENST00000481570.5:n.588T>C
ENST00000497316.5:n.902T>C
ENST00000620463.1:c.2499T>C ENSP00000477719.1:p.Gly833=
NM_000089.3:c.2505T>C , LRG_2t1:c.2505T>C NP_000080.2:p.Gly835=
NM_000089.4:c.2505T>C MANE Select NP_000080.2:p.Gly835=