Canonical Allele Identifier: CA413039652
Gene: RP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853776C>G , CM000685.2:g.46853776C>G GRCh38
NC_000023.10:g.46713211C>G , CM000685.1:g.46713211C>G GRCh37
NC_000023.9:g.46598155C>G NCBI36
NG_009107.1:g.21865C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.403C>G MANE Select ENSP00000218340.3:p.Pro135Ala
ENST00000218340.3:c.403C>G ENSP00000218340.3:p.Pro135Ala
NM_006915.2:c.403C>G NP_008846.2:p.Pro135Ala
NM_006915.3:c.403C>G MANE Select NP_008846.2:p.Pro135Ala