Canonical Allele Identifier: CA10394189
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2019411
ClinVar RCV Id: RCV002847084
dbSNP Id: rs371935908
ExAC: X:46712976 G / A
gnomAD v2: X-46712976-G-A
gnomAD v4: X-46853541-G-A
MyVariant Identifiers: chrX:g.46712976G>A (hg19) chrX:g.46853541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853541G>A , CM000685.2:g.46853541G>A GRCh38
NC_000023.10:g.46712976G>A , CM000685.1:g.46712976G>A GRCh37
NC_000023.9:g.46597920G>A NCBI36
NG_009107.1:g.21630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.168G>A MANE Select ENSP00000218340.3:p.Thr56=
ENST00000218340.3:c.168G>A ENSP00000218340.3:p.Thr56=
NM_006915.2:c.168G>A NP_008846.2:p.Thr56=
NM_006915.3:c.168G>A MANE Select NP_008846.2:p.Thr56=
Search 100 bp 5'
Search 100 bp 3'