Canonical Allele Identifier: CA516370745
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1569531624
gnomAD v4: X-46853673-G-A
MyVariant Identifiers: chrX:g.46713108G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853673G>A , CM000685.2:g.46853673G>A GRCh38
NC_000023.10:g.46713108G>A , CM000685.1:g.46713108G>A GRCh37
NC_000023.9:g.46598052G>A NCBI36
NG_009107.1:g.21762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.300G>A MANE Select ENSP00000218340.3:p.Val100=
ENST00000218340.3:c.300G>A ENSP00000218340.3:p.Val100=
NM_006915.2:c.300G>A NP_008846.2:p.Val100=
NM_006915.3:c.300G>A MANE Select NP_008846.2:p.Val100=
Search 100 bp 5'
Search 100 bp 3'