Canonical Allele Identifier: CA516370930
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713183G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853748G>T , CM000685.2:g.46853748G>T GRCh38
NC_000023.10:g.46713183G>T , CM000685.1:g.46713183G>T GRCh37
NC_000023.9:g.46598127G>T NCBI36
NG_009107.1:g.21837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.375G>T MANE Select ENSP00000218340.3:p.Leu125=
ENST00000218340.3:c.375G>T ENSP00000218340.3:p.Leu125=
NM_006915.2:c.375G>T NP_008846.2:p.Leu125=
NM_006915.3:c.375G>T MANE Select NP_008846.2:p.Leu125=