Canonical Allele Identifier: CA516370721
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713085C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853650C>T , CM000685.2:g.46853650C>T GRCh38
NC_000023.10:g.46713085C>T , CM000685.1:g.46713085C>T GRCh37
NC_000023.9:g.46598029C>T NCBI36
NG_009107.1:g.21739C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.277C>T MANE Select ENSP00000218340.3:p.Leu93=
ENST00000218340.3:c.277C>T ENSP00000218340.3:p.Leu93=
NM_006915.2:c.277C>T NP_008846.2:p.Leu93=
NM_006915.3:c.277C>T MANE Select NP_008846.2:p.Leu93=