Canonical Allele Identifier: CA368225060
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94055735G>T (hg19) chr7:g.94426423G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426423G>T , CM000669.2:g.94426423G>T GRCh38
NC_000007.13:g.94055735G>T , CM000669.1:g.94055735G>T GRCh37
NC_000007.12:g.93893671G>T NCBI36
NG_007405.1:g.36863G>T , LRG_2:g.36863G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998G>T MANE Select ENSP00000297268.6:p.Gly1000Cys
ENST00000297268.10:c.2998G>T ENSP00000297268.6:p.Gly1000Cys
ENST00000478215.1:n.557G>T
ENST00000481570.5:n.2971G>T
ENST00000620463.1:c.2992G>T ENSP00000477719.1:p.Gly998Cys
NM_000089.3:c.2998G>T , LRG_2t1:c.2998G>T NP_000080.2:p.Gly1000Cys
NM_000089.4:c.2998G>T MANE Select NP_000080.2:p.Gly1000Cys
Search 100 bp 5'
Search 100 bp 3'