Canonical Allele Identifier: CA1624187216
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs752758993
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722352C>G , CM000668.2:g.42722352C>G GRCh38
NC_000006.11:g.42690090C>G , CM000668.1:g.42690090C>G GRCh37
NC_000006.10:g.42798068C>G NCBI36
NG_009176.1:g.5269G>C
NG_009176.2:g.5269G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-18G>C MANE Select ENSP00000230381.5:n.-18G>C
ENST00000230381.6:c.-18G>C ENSP00000230381.5:n.-18G>C
NM_000322.4:c.-18G>C NP_000313.2:n.-18G>C
XR_427834.2:n.638G>C
XR_926295.1:n.638G>C
XR_427834.4:n.688G>C
XR_926295.3:n.688G>C
NM_000322.5:c.-18G>C MANE Select NP_000313.2:n.-18G>C
Search 100 bp 5'
Search 100 bp 3'