Canonical Allele Identifier: CA413038931
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2116952
ClinVar RCV Id: RCV003027493
gnomAD v4: X-46853543-T-C
MyVariant Identifiers: chrX:g.46712978T>C (hg19) chrX:g.46853543T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853543T>C , CM000685.2:g.46853543T>C GRCh38
NC_000023.10:g.46712978T>C , CM000685.1:g.46712978T>C GRCh37
NC_000023.9:g.46597922T>C NCBI36
NG_009107.1:g.21632T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.170T>C MANE Select ENSP00000218340.3:p.Val57Ala
ENST00000218340.3:c.170T>C ENSP00000218340.3:p.Val57Ala
NM_006915.2:c.170T>C NP_008846.2:p.Val57Ala
NM_006915.3:c.170T>C MANE Select NP_008846.2:p.Val57Ala
Search 100 bp 5'
Search 100 bp 3'