Canonical Allele Identifier: CA413040079
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713311A>C (hg19) chrX:g.46853876A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853876A>C , CM000685.2:g.46853876A>C GRCh38
NC_000023.10:g.46713311A>C , CM000685.1:g.46713311A>C GRCh37
NC_000023.9:g.46598255A>C NCBI36
NG_009107.1:g.21965A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.4:c.503A>C MANE Select ENSP00000218340.3:p.Asn168Thr
ENST00000218340.3:c.503A>C ENSP00000218340.3:p.Asn168Thr
NM_006915.2:c.503A>C NP_008846.2:p.Asn168Thr
NM_006915.3:c.503A>C MANE Select NP_008846.2:p.Asn168Thr
Search 100 bp 5'
Search 100 bp 3'