Canonical Allele Identifier: CA3808661
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs758924894
ExAC: 6:42689943 C / T
gnomAD v2: 6-42689943-C-T
COSMIC: COSM3627405
MyVariant Identifiers: chr6:g.42689943C>T (hg19) chr6:g.42722205C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722205C>T , CM000668.2:g.42722205C>T GRCh38
NC_000006.11:g.42689943C>T , CM000668.1:g.42689943C>T GRCh37
NC_000006.10:g.42797921C>T NCBI36
NG_009176.1:g.5416G>A
NG_009176.2:g.5416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.130G>A MANE Select ENSP00000230381.5:p.Glu44Lys
ENST00000230381.6:c.130G>A ENSP00000230381.5:p.Glu44Lys
NM_000322.4:c.130G>A NP_000313.2:p.Glu44Lys
XR_427834.2:n.785G>A
XR_926295.1:n.785G>A
XR_427834.4:n.835G>A
XR_926295.3:n.835G>A
NM_000322.5:c.130G>A MANE Select NP_000313.2:p.Glu44Lys
Search 100 bp 5'
Search 100 bp 3'