Canonical Allele Identifier: CA4347868
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94429329A>C
GRCh37 chr7:g.94058641A>C
Revel Score:
ENST00000297268 (MANE Select) 0.428
ENST00000545487 0.428
gnomAD v2:
7:94058641 A / C
gnomAD v3:
7:94429329 A / C
gnomAD v4:
chr7-94429329-A-C
Joint Max Group AF 0.00106879 (NFE)
Genomes Max Group AF 0.00075524 (NFE)
Exomes Max Group AF 0.00107841 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94429329A>C , CM000669.2:g.94429329A>C GRCh38
NC_000007.13:g.94058641A>C , CM000669.1:g.94058641A>C GRCh37
NC_000007.12:g.93896577A>C NCBI36
NG_007405.1:g.39769A>C , LRG_2:g.39769A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3853A>C MANE Select ENSP00000297268.6:p.Asn1285His
ENST00000297268.10:c.3853A>C ENSP00000297268.6:p.Asn1285His
ENST00000464916.1:n.901A>C
ENST00000481570.5:n.4634A>C
ENST00000620463.1:c.3847A>C ENSP00000477719.1:p.Asn1283His
NM_000089.3:c.3853A>C , LRG_2t1:c.3853A>C NP_000080.2:p.Asn1285His
NM_000089.4:c.3853A>C MANE Select NP_000080.2:p.Asn1285His
Search 100 bp 5'
Search 100 bp 3'