Canonical Allele Identifier: CA368223995
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052336A>C (hg19) chr7:g.94423024A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423024A>C , CM000669.2:g.94423024A>C GRCh38
NC_000007.13:g.94052336A>C , CM000669.1:g.94052336A>C GRCh37
NC_000007.12:g.93890272A>C NCBI36
NG_007405.1:g.33464A>C , LRG_2:g.33464A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2471A>C MANE Select ENSP00000297268.6:p.Asp824Ala
ENST00000297268.10:c.2471A>C ENSP00000297268.6:p.Asp824Ala
ENST00000481570.5:n.554A>C
ENST00000497316.5:n.868A>C
ENST00000620463.1:c.2465A>C ENSP00000477719.1:p.Asp822Ala
NM_000089.3:c.2471A>C , LRG_2t1:c.2471A>C NP_000080.2:p.Asp824Ala
NM_000089.4:c.2471A>C MANE Select NP_000080.2:p.Asp824Ala
Search 100 bp 5'
Search 100 bp 3'