Canonical Allele Identifier: CA16042305
Gene: RGS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.192810432G>T
GRCh37 chr1:g.192779562G>T
gnomAD v2:
1:192779562 G / T
gnomAD v3:
1:192810432 G / T
gnomAD v4:
chr1-192810432-G-T
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000412916
ClinVar Variation:
372899
dbSNP:
547204431
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192810432G>T , CM000663.2:g.192810432G>T GRCh38
NC_000001.10:g.192779562G>T , CM000663.1:g.192779562G>T GRCh37
NC_000001.9:g.191046185G>T NCBI36
NG_012800.1:g.6394G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000235382.7:c.274+1G>T MANE Select ENSP00000235382.5:n.274+1G>T
ENST00000235382.6:c.274+1G>T ENSP00000235382.5:n.274+1G>T
ENST00000464302.1:n.406+1G>T
ENST00000483295.1:n.410G>T
ENST00000487236.1:n.281+1G>T
NM_002923.3:c.274+1G>T NP_002914.1:n.274+1G>T
NM_002923.4:c.274+1G>T MANE Select NP_002914.1:n.274+1G>T
Search 100 bp 5'
Search 100 bp 3'