Canonical Allele Identifier: CA364137375
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 973726
ClinVar RCV Id: RCV001250368 RCV001530229
dbSNP Id: rs1761906296
MyVariant Identifiers: chr6:g.42689552C>G (hg19) chr6:g.42721814C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721814C>G , CM000668.2:g.42721814C>G GRCh38
NC_000006.11:g.42689552C>G , CM000668.1:g.42689552C>G GRCh37
NC_000006.10:g.42797530C>G NCBI36
NG_009176.1:g.5807G>C
NG_009176.2:g.5807G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.521G>C MANE Select ENSP00000230381.5:p.Trp174Ser
ENST00000230381.6:c.521G>C ENSP00000230381.5:p.Trp174Ser
NM_000322.4:c.521G>C NP_000313.2:p.Trp174Ser
XR_427834.2:n.1176G>C
XR_926295.1:n.1176G>C
XR_427834.4:n.1226G>C
XR_926295.3:n.1226G>C
NM_000322.5:c.521G>C MANE Select NP_000313.2:p.Trp174Ser
Search 100 bp 5'
Search 100 bp 3'