Canonical Allele Identifier: CA364137352
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2628022
ClinVar RCV Id: RCV003389572

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721805A>C , CM000668.2:g.42721805A>C GRCh38
NC_000006.11:g.42689543A>C , CM000668.1:g.42689543A>C GRCh37
NC_000006.10:g.42797521A>C NCBI36
NG_009176.1:g.5816T>G
NG_009176.2:g.5816T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.530T>G MANE Select ENSP00000230381.5:p.Ile177Ser
ENST00000230381.6:c.530T>G ENSP00000230381.5:p.Ile177Ser
NM_000322.4:c.530T>G NP_000313.2:p.Ile177Ser
XR_427834.2:n.1185T>G
XR_926295.1:n.1185T>G
XR_427834.4:n.1235T>G
XR_926295.3:n.1235T>G
NM_000322.5:c.530T>G MANE Select NP_000313.2:p.Ile177Ser