Canonical Allele Identifier: CA10820757
Gene: RGS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.192810097T>A
GRCh37 chr1:g.192779227T>A
gnomAD v2:
1:192779227 T / A
gnomAD v3:
1:192810097 T / A
gnomAD v4:
chr1-192810097-T-A
Joint Max Group AF 0.42758752 (EAS)
Genomes Max Group AF 0.43020194 (EAS)
Exomes Max Group AF 0.42537054 (EAS)
dbSNP:
2746073
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192810097T>A , CM000663.2:g.192810097T>A GRCh38
NC_000001.10:g.192779227T>A , CM000663.1:g.192779227T>A GRCh37
NC_000001.9:g.191045850T>A NCBI36
NG_012800.1:g.6059T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000235382.7:c.111-69T>A MANE Select ENSP00000235382.5:n.111-69T>A
ENST00000235382.6:c.111-69T>A ENSP00000235382.5:n.111-69T>A
ENST00000464302.1:n.141-69T>A
ENST00000483295.1:n.144-69T>A
ENST00000487236.1:n.118-69T>A
NM_002923.3:c.111-69T>A NP_002914.1:n.111-69T>A
NM_002923.4:c.111-69T>A MANE Select NP_002914.1:n.111-69T>A
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