Canonical Allele Identifier: CA344072683
Gene: RGS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.192810432G>C
GRCh37 chr1:g.192779562G>C
gnomAD v2:
1:192779562 G / C
gnomAD v3:
1:192810432 G / C
gnomAD v4:
chr1-192810432-G-C
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00000531 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000235382.7:c.274+1G>C MANE Select ENSP00000235382.5:n.274+1G>C
ENST00000235382.6:c.274+1G>C ENSP00000235382.5:n.274+1G>C
ENST00000464302.1:n.406+1G>C
ENST00000483295.1:n.410G>C
ENST00000487236.1:n.281+1G>C
NM_002923.3:c.274+1G>C NP_002914.1:n.274+1G>C
NM_002923.4:c.274+1G>C MANE Select NP_002914.1:n.274+1G>C
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