Canonical Allele Identifier: CA4347701
Gene: COL1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.94427237A>C
GRCh37 chr7:g.94056549A>C
Revel Score:
ENST00000297268 (MANE Select) 0.421
ENST00000545487 0.421
gnomAD v2:
7:94056549 A / C
gnomAD v3:
7:94427237 A / C
gnomAD v4:
chr7-94427237-A-C
Joint Max Group AF 0.00002394 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002985 (AMR)
ClinVar RCV:
RCV001560740
RCV002231240
ClinVar Variation:
456828
dbSNP:
767399660
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94427237A>C , CM000669.2:g.94427237A>C GRCh38
NC_000007.13:g.94056549A>C , CM000669.1:g.94056549A>C GRCh37
NC_000007.12:g.93894485A>C NCBI36
NG_007405.1:g.37677A>C , LRG_2:g.37677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3209A>C MANE Select ENSP00000297268.6:p.His1070Pro
ENST00000297268.10:c.3209A>C ENSP00000297268.6:p.His1070Pro
ENST00000481570.5:n.3659A>C
ENST00000488121.1:n.125A>C
ENST00000492110.1:n.329A>C
ENST00000620463.1:c.3203A>C ENSP00000477719.1:p.His1068Pro
NM_000089.3:c.3209A>C , LRG_2t1:c.3209A>C NP_000080.2:p.His1070Pro
NM_000089.4:c.3209A>C MANE Select NP_000080.2:p.His1070Pro
Search 100 bp 5'
Search 100 bp 3'