Canonical Allele Identifier: CA1624187246
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1761923410
gnomAD v4: 6-42722401-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722401G>C , CM000668.2:g.42722401G>C GRCh38
NC_000006.11:g.42690139G>C , CM000668.1:g.42690139G>C GRCh37
NC_000006.10:g.42798117G>C NCBI36
NG_009176.1:g.5220C>G
NG_009176.2:g.5220C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-67C>G MANE Select ENSP00000230381.5:n.-67C>G
ENST00000230381.6:c.-67C>G ENSP00000230381.5:n.-67C>G
NM_000322.4:c.-67C>G NP_000313.2:n.-67C>G
XR_427834.2:n.589C>G
XR_926295.1:n.589C>G
XR_427834.4:n.639C>G
XR_926295.3:n.639C>G
NM_000322.5:c.-67C>G MANE Select NP_000313.2:n.-67C>G
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