Canonical Allele Identifier: CA2528719379
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722360T>C , CM000668.2:g.42722360T>C GRCh38
NC_000006.11:g.42690098T>C , CM000668.1:g.42690098T>C GRCh37
NC_000006.10:g.42798076T>C NCBI36
NG_009176.1:g.5261A>G
NG_009176.2:g.5261A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-26A>G MANE Select ENSP00000230381.5:n.-26A>G
ENST00000230381.6:c.-26A>G ENSP00000230381.5:n.-26A>G
NM_000322.4:c.-26A>G NP_000313.2:n.-26A>G
XR_427834.2:n.630A>G
XR_926295.1:n.630A>G
XR_427834.4:n.680A>G
XR_926295.3:n.680A>G
NM_000322.5:c.-26A>G MANE Select NP_000313.2:n.-26A>G