Canonical Allele Identifier: CA10394161
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289614
ClinVar RCV Id: RCV000263023 RCV000369714
dbSNP Id: rs782402689
ExAC: X:46696565 G / A
gnomAD v2: X-46696565-G-A
gnomAD v3: X-46837130-G-A
gnomAD v4: X-46837130-G-A
COSMIC: COSM3694596
MyVariant Identifiers: chrX:g.46696565G>A (hg19) chrX:g.46837130G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46837130G>A , CM000685.2:g.46837130G>A GRCh38
NC_000023.10:g.46696565G>A , CM000685.1:g.46696565G>A GRCh37
NC_000023.9:g.46581509G>A NCBI36
NG_009107.1:g.5219G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.30G>A MANE Select ENSP00000218340.3:p.Lys10=
ENST00000218340.3:c.30G>A ENSP00000218340.3:p.Lys10=
NM_006915.2:c.30G>A NP_008846.2:p.Lys10=
NM_006915.3:c.30G>A MANE Select NP_008846.2:p.Lys10=
Search 100 bp 5'
Search 100 bp 3'