Canonical Allele Identifier: CA516371011
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713204C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853769C>A , CM000685.2:g.46853769C>A GRCh38
NC_000023.10:g.46713204C>A , CM000685.1:g.46713204C>A GRCh37
NC_000023.9:g.46598148C>A NCBI36
NG_009107.1:g.21858C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.396C>A MANE Select ENSP00000218340.3:p.Ala132=
ENST00000218340.3:c.396C>A ENSP00000218340.3:p.Ala132=
NM_006915.2:c.396C>A NP_008846.2:p.Ala132=
NM_006915.3:c.396C>A MANE Select NP_008846.2:p.Ala132=