Canonical Allele Identifier: CA456487042
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94033888C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404576C>A , CM000669.2:g.94404576C>A GRCh38
NC_000007.13:g.94033888C>A , CM000669.1:g.94033888C>A GRCh37
NC_000007.12:g.93871824C>A NCBI36
NG_007405.1:g.15016C>A , LRG_2:g.15016C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.300C>A MANE Select ENSP00000297268.6:p.Gly100=
ENST00000297268.10:c.300C>A ENSP00000297268.6:p.Gly100=
ENST00000620463.1:c.294C>A ENSP00000477719.1:p.Gly98=
NM_000089.3:c.300C>A , LRG_2t1:c.300C>A NP_000080.2:p.Gly100=
NM_000089.4:c.300C>A MANE Select NP_000080.2:p.Gly100=
Search 100 bp 5'
Search 100 bp 3'