Canonical Allele Identifier: CA255299
Gene: RP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10545
dbSNP Id: rs104894925
gnomAD v4: X-46837176-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46837176C>T , CM000685.2:g.46837176C>T GRCh38
NC_000023.10:g.46696611C>T , CM000685.1:g.46696611C>T GRCh37
NC_000023.9:g.46581555C>T NCBI36
NG_009107.1:g.5265C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.76C>T MANE Select ENSP00000218340.3:p.Gln26Ter
ENST00000218340.3:c.76C>T ENSP00000218340.3:p.Gln26Ter
NM_006915.2:c.76C>T NP_008846.2:p.Gln26Ter
NM_006915.3:c.76C>T MANE Select NP_008846.2:p.Gln26Ter