Canonical Allele Identifier: CA413038926
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 942018
ClinVar RCV Id: RCV001211919
dbSNP Id: rs1201646093
gnomAD v2: X-46712975-C-T
gnomAD v3: X-46853540-C-T
gnomAD v4: X-46853540-C-T
COSMIC: COSM4109597
MyVariant Identifiers: chrX:g.46712975C>T (hg19) chrX:g.46853540C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853540C>T , CM000685.2:g.46853540C>T GRCh38
NC_000023.10:g.46712975C>T , CM000685.1:g.46712975C>T GRCh37
NC_000023.9:g.46597919C>T NCBI36
NG_009107.1:g.21629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.167C>T MANE Select ENSP00000218340.3:p.Thr56Met
ENST00000218340.3:c.167C>T ENSP00000218340.3:p.Thr56Met
NM_006915.2:c.167C>T NP_008846.2:p.Thr56Met
NM_006915.3:c.167C>T MANE Select NP_008846.2:p.Thr56Met
Search 100 bp 5'
Search 100 bp 3'