Canonical Allele Identifier: CA368225068
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1188793179
gnomAD v2: 7-94055741-C-A
MyVariant Identifiers: chr7:g.94055741C>A (hg19) chr7:g.94426429C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426429C>A , CM000669.2:g.94426429C>A GRCh38
NC_000007.13:g.94055741C>A , CM000669.1:g.94055741C>A GRCh37
NC_000007.12:g.93893677C>A NCBI36
NG_007405.1:g.36869C>A , LRG_2:g.36869C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3004C>A MANE Select ENSP00000297268.6:p.Gln1002Lys
ENST00000297268.10:c.3004C>A ENSP00000297268.6:p.Gln1002Lys
ENST00000478215.1:n.563C>A
ENST00000481570.5:n.2977C>A
ENST00000620463.1:c.2998C>A ENSP00000477719.1:p.Gln1000Lys
NM_000089.3:c.3004C>A , LRG_2t1:c.3004C>A NP_000080.2:p.Gln1002Lys
NM_000089.4:c.3004C>A MANE Select NP_000080.2:p.Gln1002Lys
Search 100 bp 5'
Search 100 bp 3'