Canonical Allele Identifier: CA450362710
Gene: PRPH2 HGNC NCBI

Linked Data

COSMIC: COSM3627407
MyVariant Identifiers: chr6:g.42689977G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722239G>A , CM000668.2:g.42722239G>A GRCh38
NC_000006.11:g.42689977G>A , CM000668.1:g.42689977G>A GRCh37
NC_000006.10:g.42797955G>A NCBI36
NG_009176.1:g.5382C>T
NG_009176.2:g.5382C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.96C>T MANE Select ENSP00000230381.5:p.Ile32=
ENST00000230381.6:c.96C>T ENSP00000230381.5:p.Ile32=
NM_000322.4:c.96C>T NP_000313.2:p.Ile32=
XR_427834.2:n.751C>T
XR_926295.1:n.751C>T
XR_427834.4:n.801C>T
XR_926295.3:n.801C>T
NM_000322.5:c.96C>T MANE Select NP_000313.2:p.Ile32=
Search 100 bp 5'
Search 100 bp 3'