Canonical Allele Identifier: CA4347339
Gene: COL1A2 HGNC NCBI
COSMIC:
COSM4965385 (not active)
MyVariant.info:
GRCh38 chr7:g.94420425A>G
GRCh37 chr7:g.94049737A>G
Revel Score:
ENST00000297268 (MANE Select) 0.178
ENST00000545487 0.178
gnomAD v2:
7:94049737 A / G
gnomAD v3:
7:94420425 A / G
gnomAD v4:
chr7-94420425-A-G
Joint Max Group AF 0.000731 (EAS)
Genomes Max Group AF 0.00081314 (AMR)
Exomes Max Group AF 0.0007161 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94420425A>G , CM000669.2:g.94420425A>G GRCh38
NC_000007.13:g.94049737A>G , CM000669.1:g.94049737A>G GRCh37
NC_000007.12:g.93887673A>G NCBI36
NG_007405.1:g.30865A>G , LRG_2:g.30865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2168A>G MANE Select ENSP00000297268.6:p.Asn723Ser
ENST00000297268.10:c.2168A>G ENSP00000297268.6:p.Asn723Ser
ENST00000461525.5:n.257A>G
ENST00000467931.1:n.188A>G
ENST00000473573.5:n.505A>G
ENST00000497316.5:n.565A>G
ENST00000620463.1:c.2162A>G ENSP00000477719.1:p.Asn721Ser
NM_000089.3:c.2168A>G , LRG_2t1:c.2168A>G NP_000080.2:p.Asn723Ser
NM_000089.4:c.2168A>G MANE Select NP_000080.2:p.Asn723Ser
Search 100 bp 5'
Search 100 bp 3'