Canonical Allele Identifier: CA413038924
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46853540-C-A
MyVariant Identifiers: chrX:g.46712975C>A (hg19) chrX:g.46853540C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853540C>A , CM000685.2:g.46853540C>A GRCh38
NC_000023.10:g.46712975C>A , CM000685.1:g.46712975C>A GRCh37
NC_000023.9:g.46597919C>A NCBI36
NG_009107.1:g.21629C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.167C>A MANE Select ENSP00000218340.3:p.Thr56Lys
ENST00000218340.3:c.167C>A ENSP00000218340.3:p.Thr56Lys
NM_006915.2:c.167C>A NP_008846.2:p.Thr56Lys
NM_006915.3:c.167C>A MANE Select NP_008846.2:p.Thr56Lys
Search 100 bp 5'
Search 100 bp 3'