Canonical Allele Identifier: CA236346

Gene: RP2

Linked Data

• ClinVar Variation Id: 191246
• ClinVar RCV Id: RCV000171435 ; RCV001003180 ; RCV001257801
• dbSNP Id: rs797044561
• MyVariant Identifiers: chrX:g.46696537T>C (hg19) ; chrX:g.46837102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837102T>C , CM000685.2:g.46837102T>C	GRCh38
NC_000023.10:g.46696537T>C , CM000685.1:g.46696537T>C	GRCh37
NC_000023.9:g.46581481T>C	NCBI36
NG_009107.1:g.5191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.2T>C MANE Select	ENSP00000218340.3:p.Met1Thr
ENST00000218340.3:c.2T>C	ENSP00000218340.3:p.Met1Thr
NM_006915.2:c.2T>C	NP_008846.2:p.Met1Thr
NM_006915.3:c.2T>C MANE Select	NP_008846.2:p.Met1Thr