Canonical Allele Identifier: CA641727474
Gene: RP2 HGNC NCBI

Linked Data

dbSNP Id: rs1556313194
gnomAD v2: X-46696350-T-A
gnomAD v3: X-46836915-T-A
gnomAD v4: X-46836915-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46836915T>A , CM000685.2:g.46836915T>A GRCh38
NC_000023.10:g.46696350T>A , CM000685.1:g.46696350T>A GRCh37
NC_000023.9:g.46581294T>A NCBI36
NG_009107.1:g.5004T>A

Transcript Alleles

HGVS Amino-acid Change
NM_006915.2:c.-186T>A NP_008846.2:n.-186T>A