Canonical Allele Identifier: CA364138852
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175240
ClinVar RCV Id: RCV001530273
dbSNP Id: rs2152011132
MyVariant Identifiers: chr6:g.42690010C>T (hg19) chr6:g.42722272C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722272C>T , CM000668.2:g.42722272C>T GRCh38
NC_000006.11:g.42690010C>T , CM000668.1:g.42690010C>T GRCh37
NC_000006.10:g.42797988C>T NCBI36
NG_009176.1:g.5349G>A
NG_009176.2:g.5349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.63G>A MANE Select ENSP00000230381.5:p.Trp21Ter
ENST00000230381.6:c.63G>A ENSP00000230381.5:p.Trp21Ter
NM_000322.4:c.63G>A NP_000313.2:p.Trp21Ter
XR_427834.2:n.718G>A
XR_926295.1:n.718G>A
XR_427834.4:n.768G>A
XR_926295.3:n.768G>A
NM_000322.5:c.63G>A MANE Select NP_000313.2:p.Trp21Ter
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