Canonical Allele Identifier: CA3808677
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs775176959
ExAC: 6:42690042 T / A
gnomAD v2: 6-42690042-T-A
gnomAD v4: 6-42722304-T-A
MyVariant Identifiers: chr6:g.42690042T>A (hg19) chr6:g.42722304T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722304T>A , CM000668.2:g.42722304T>A GRCh38
NC_000006.11:g.42690042T>A , CM000668.1:g.42690042T>A GRCh37
NC_000006.10:g.42798020T>A NCBI36
NG_009176.1:g.5317A>T
NG_009176.2:g.5317A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.31A>T MANE Select ENSP00000230381.5:p.Lys11Ter
ENST00000230381.6:c.31A>T ENSP00000230381.5:p.Lys11Ter
NM_000322.4:c.31A>T NP_000313.2:p.Lys11Ter
XR_427834.2:n.686A>T
XR_926295.1:n.686A>T
XR_427834.4:n.736A>T
XR_926295.3:n.736A>T
NM_000322.5:c.31A>T MANE Select NP_000313.2:p.Lys11Ter
Search 100 bp 5'
Search 100 bp 3'