Canonical Allele Identifier: CA2693550303
Gene: RP2 HGNC NCBI

Linked Data

gnomAD v4: X-46836966-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836966A>G , CM000685.2:g.46836966A>G GRCh38
NC_000023.10:g.46696401A>G , CM000685.1:g.46696401A>G GRCh37
NC_000023.9:g.46581345A>G NCBI36
NG_009107.1:g.5055A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218340.3:c.-135A>G ENSP00000218340.3:n.-135A>G
NM_006915.2:c.-135A>G NP_008846.2:n.-135A>G
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