Canonical Allele Identifier: CA4562269
Gene: RARRES2 HGNC NCBI
COSMIC:
COSN17076867 (not active)
COSN17076968 (not active)
COSN17077169 (not active)
COSN17077218 (not active)
COSN17077270 (not active)
COSN17077383 (not active)
COSN17077500 (not active)
COSN17077631 (not active)
COSN17077694 (not active)
COSN17077757 (not active)
COSN17077812 (not active)
COSN17077861 (not active)
COSN17077944 (not active)
MyVariant.info:
GRCh38 chr7:g.150338437T>G
GRCh37 chr7:g.150035526T>G
Revel Score:
ENST00000467793 0.013
gnomAD v2:
7:150035526 T / G
gnomAD v3:
7:150338437 T / G
gnomAD v4:
chr7-150338437-T-G
Joint Max Group AF 0.62896286 (AFR)
Genomes Max Group AF 0.62109215 (AFR)
Exomes Max Group AF 0.63474638 (AFR)
dbSNP:
4721
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150338437T>G , CM000669.2:g.150338437T>G GRCh38
NC_000007.13:g.150035526T>G , CM000669.1:g.150035526T>G GRCh37
NC_000007.12:g.149666459T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000223271.8:c.*13A>C MANE Select ENSP00000223271.3:n.*13A>C
ENST00000223271.7:c.*13A>C ENSP00000223271.3:n.*13A>C
ENST00000466675.5:c.*13A>C ENSP00000418009.1:n.*13A>C
ENST00000467793.5:c.378A>C ENSP00000417669.1:p.Arg126Ser
ENST00000478771.2:n.1787A>C
NM_002889.3:c.*13A>C NP_002880.1:n.*13A>C
NM_002889.4:c.*13A>C MANE Select NP_002880.1:n.*13A>C
Search 100 bp 5'
Search 100 bp 3'