Canonical Allele Identifier: CA413039625
Gene: RP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853771C>G , CM000685.2:g.46853771C>G GRCh38
NC_000023.10:g.46713206C>G , CM000685.1:g.46713206C>G GRCh37
NC_000023.9:g.46598150C>G NCBI36
NG_009107.1:g.21860C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.398C>G MANE Select ENSP00000218340.3:p.Thr133Ser
ENST00000218340.3:c.398C>G ENSP00000218340.3:p.Thr133Ser
NM_006915.2:c.398C>G NP_008846.2:p.Thr133Ser
NM_006915.3:c.398C>G MANE Select NP_008846.2:p.Thr133Ser