Canonical Allele Identifier: CA413038215

Gene: RP2

Linked Data

• gnomAD v4: X-46837137-A-G
• MyVariant Identifiers: chrX:g.46696572A>G (hg19) ; chrX:g.46837137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.46837137A>G , CM000685.2:g.46837137A>G	GRCh38
NC_000023.10:g.46696572A>G , CM000685.1:g.46696572A>G	GRCh37
NC_000023.9:g.46581516A>G	NCBI36
NG_009107.1:g.5226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218340.4:c.37A>G MANE Select	ENSP00000218340.3:p.Lys13Glu
ENST00000218340.3:c.37A>G	ENSP00000218340.3:p.Lys13Glu
NM_006915.2:c.37A>G	NP_008846.2:p.Lys13Glu
NM_006915.3:c.37A>G MANE Select	NP_008846.2:p.Lys13Glu