Canonical Allele Identifier: CA413038917
Gene: RP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853536G>T , CM000685.2:g.46853536G>T GRCh38
NC_000023.10:g.46712971G>T , CM000685.1:g.46712971G>T GRCh37
NC_000023.9:g.46597915G>T NCBI36
NG_009107.1:g.21625G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.163G>T MANE Select ENSP00000218340.3:p.Gly55Trp
ENST00000218340.3:c.163G>T ENSP00000218340.3:p.Gly55Trp
NM_006915.2:c.163G>T NP_008846.2:p.Gly55Trp
NM_006915.3:c.163G>T MANE Select NP_008846.2:p.Gly55Trp