Canonical Allele Identifier: CA413039339
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713154C>A (hg19) chrX:g.46853719C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853719C>A , CM000685.2:g.46853719C>A GRCh38
NC_000023.10:g.46713154C>A , CM000685.1:g.46713154C>A GRCh37
NC_000023.9:g.46598098C>A NCBI36
NG_009107.1:g.21808C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.346C>A MANE Select ENSP00000218340.3:p.Gln116Lys
ENST00000218340.3:c.346C>A ENSP00000218340.3:p.Gln116Lys
NM_006915.2:c.346C>A NP_008846.2:p.Gln116Lys
NM_006915.3:c.346C>A MANE Select NP_008846.2:p.Gln116Lys
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