Canonical Allele Identifier: CA329691493
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2877783
ClinVar RCV Id: RCV003715129
dbSNP Id: rs372910103
gnomAD v2: X-46713204-C-G
gnomAD v3: X-46853769-C-G
gnomAD v4: X-46853769-C-G
MyVariant Identifiers: chrX:g.46713204C>G (hg19) chrX:g.46853769C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853769C>G , CM000685.2:g.46853769C>G GRCh38
NC_000023.10:g.46713204C>G , CM000685.1:g.46713204C>G GRCh37
NC_000023.9:g.46598148C>G NCBI36
NG_009107.1:g.21858C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.396C>G MANE Select ENSP00000218340.3:p.Ala132=
ENST00000218340.3:c.396C>G ENSP00000218340.3:p.Ala132=
NM_006915.2:c.396C>G NP_008846.2:p.Ala132=
NM_006915.3:c.396C>G MANE Select NP_008846.2:p.Ala132=
Search 100 bp 5'
Search 100 bp 3'