Canonical Allele Identifier: CA413040083
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713312C>G (hg19) chrX:g.46853877C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853877C>G , CM000685.2:g.46853877C>G GRCh38
NC_000023.10:g.46713312C>G , CM000685.1:g.46713312C>G GRCh37
NC_000023.9:g.46598256C>G NCBI36
NG_009107.1:g.21966C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.504C>G MANE Select ENSP00000218340.3:p.Asn168Lys
ENST00000218340.3:c.504C>G ENSP00000218340.3:p.Asn168Lys
NM_006915.2:c.504C>G NP_008846.2:p.Asn168Lys
NM_006915.3:c.504C>G MANE Select NP_008846.2:p.Asn168Lys
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