Canonical Allele Identifier: CA16042607
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94423084G>C
GRCh37 chr7:g.94052396G>C
Revel Score:
ENST00000297268 (MANE Select) 0.981
ENST00000545487 0.981
gnomAD v3:
7:94423084 G / C
gnomAD v4:
chr7-94423084-G-C
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000414112
RCV002230748
ClinVar Variation:
373093
dbSNP:
928361235
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423084G>C , CM000669.2:g.94423084G>C GRCh38
NC_000007.13:g.94052396G>C , CM000669.1:g.94052396G>C GRCh37
NC_000007.12:g.93890332G>C NCBI36
NG_007405.1:g.33524G>C , LRG_2:g.33524G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2531G>C MANE Select ENSP00000297268.6:p.Gly844Ala
ENST00000297268.10:c.2531G>C ENSP00000297268.6:p.Gly844Ala
ENST00000481570.5:n.614G>C
ENST00000497316.5:n.928G>C
ENST00000620463.1:c.2525G>C ENSP00000477719.1:p.Gly842Ala
NM_000089.3:c.2531G>C , LRG_2t1:c.2531G>C NP_000080.2:p.Gly844Ala
NM_000089.4:c.2531G>C MANE Select NP_000080.2:p.Gly844Ala
Search 100 bp 5'
Search 100 bp 3'