Canonical Allele Identifier: CA255299

Gene: RP2

Linked Data

• ClinVar Variation Id: 10545
• ClinVar RCV Id: RCV000011291 ; RCV000657655
• dbSNP Id: rs104894925
• gnomAD v4: X-46837176-C-T
• MyVariant Identifiers: chrX:g.46696611C>T (hg19) ; chrX:g.46837176C>T (hg38)
• PubMed: PMID:9697692

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837176C>T , CM000685.2:g.46837176C>T	GRCh38
NC_000023.10:g.46696611C>T , CM000685.1:g.46696611C>T	GRCh37
NC_000023.9:g.46581555C>T	NCBI36
NG_009107.1:g.5265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.76C>T MANE Select	ENSP00000218340.3:p.Gln26Ter
ENST00000218340.3:c.76C>T	ENSP00000218340.3:p.Gln26Ter
NM_006915.2:c.76C>T	NP_008846.2:p.Gln26Ter
NM_006915.3:c.76C>T MANE Select	NP_008846.2:p.Gln26Ter