Canonical Allele Identifier: CA456488142
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94037533T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408221T>C , CM000669.2:g.94408221T>C GRCh38
NC_000007.13:g.94037533T>C , CM000669.1:g.94037533T>C GRCh37
NC_000007.12:g.93875469T>C NCBI36
NG_007405.1:g.18661T>C , LRG_2:g.18661T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.678T>C MANE Select ENSP00000297268.6:p.Gly226=
ENST00000297268.10:c.678T>C ENSP00000297268.6:p.Gly226=
ENST00000620463.1:c.672T>C ENSP00000477719.1:p.Gly224=
NM_000089.3:c.678T>C , LRG_2t1:c.678T>C NP_000080.2:p.Gly226=
NM_000089.4:c.678T>C MANE Select NP_000080.2:p.Gly226=
Search 100 bp 5'
Search 100 bp 3'