Canonical Allele Identifier: CA413038941
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353603
ClinVar RCV Id: RCV001863498
dbSNP Id: rs2147081178
MyVariant Identifiers: chrX:g.46712983G>T (hg19) chrX:g.46853548G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853548G>T , CM000685.2:g.46853548G>T GRCh38
NC_000023.10:g.46712983G>T , CM000685.1:g.46712983G>T GRCh37
NC_000023.9:g.46597927G>T NCBI36
NG_009107.1:g.21637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.175G>T MANE Select ENSP00000218340.3:p.Gly59Ter
ENST00000218340.3:c.175G>T ENSP00000218340.3:p.Gly59Ter
NM_006915.2:c.175G>T NP_008846.2:p.Gly59Ter
NM_006915.3:c.175G>T MANE Select NP_008846.2:p.Gly59Ter
Search 100 bp 5'
Search 100 bp 3'