Canonical Allele Identifier: CA413039222
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs781936550
gnomAD v3: X-46853671-G-C
gnomAD v4: X-46853671-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853671G>C , CM000685.2:g.46853671G>C GRCh38
NC_000023.10:g.46713106G>C , CM000685.1:g.46713106G>C GRCh37
NC_000023.9:g.46598050G>C NCBI36
NG_009107.1:g.21760G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.298G>C MANE Select ENSP00000218340.3:p.Val100Leu
ENST00000218340.3:c.298G>C ENSP00000218340.3:p.Val100Leu
NM_006915.2:c.298G>C NP_008846.2:p.Val100Leu
NM_006915.3:c.298G>C MANE Select NP_008846.2:p.Val100Leu