Canonical Allele Identifier: CA364134980
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175298
ClinVar RCV Id: RCV001530375
dbSNP Id: rs1458793437
MyVariant Identifiers: chr6:g.42672182C>T (hg19) chr6:g.42704444C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704444C>T , CM000668.2:g.42704444C>T GRCh38
NC_000006.11:g.42672182C>T , CM000668.1:g.42672182C>T GRCh37
NC_000006.10:g.42780160C>T NCBI36
NG_009176.1:g.23177G>A
NG_009176.2:g.23177G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.749G>A MANE Select ENSP00000230381.5:p.Cys250Tyr
ENST00000230381.6:c.749G>A ENSP00000230381.5:p.Cys250Tyr
NM_000322.4:c.749G>A NP_000313.2:p.Cys250Tyr
XR_427834.2:n.1404G>A
XR_427834.4:n.1454G>A
XR_926295.3:n.1636G>A
NM_000322.5:c.749G>A MANE Select NP_000313.2:p.Cys250Tyr
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