Canonical Allele Identifier: CA413039604
Gene: RP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.46713202G>T (hg19) chrX:g.46853767G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46853767G>T , CM000685.2:g.46853767G>T GRCh38
NC_000023.10:g.46713202G>T , CM000685.1:g.46713202G>T GRCh37
NC_000023.9:g.46598146G>T NCBI36
NG_009107.1:g.21856G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218340.4:c.394G>T MANE Select ENSP00000218340.3:p.Ala132Ser
ENST00000218340.3:c.394G>T ENSP00000218340.3:p.Ala132Ser
NM_006915.2:c.394G>T NP_008846.2:p.Ala132Ser
NM_006915.3:c.394G>T MANE Select NP_008846.2:p.Ala132Ser
Search 100 bp 5'
Search 100 bp 3'