Canonical Allele Identifier: CA226319
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98713
ClinVar RCV Id: RCV000085026 RCV001047656 RCV001073686 RCV001250344 RCV001250345 RCV001250346 RCV001250347 RCV001250357 RCV001250358 RCV001250359 RCV001542666
dbSNP Id: rs281865373
ExAC: 6:42672100 T / A
gnomAD v2: 6-42672100-T-A
gnomAD v4: 6-42704362-T-A
MyVariant Identifiers: chr6:g.42672100T>A (hg19) chr6:g.42704362T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704362T>A , CM000668.2:g.42704362T>A GRCh38
NC_000006.11:g.42672100T>A , CM000668.1:g.42672100T>A GRCh37
NC_000006.10:g.42780078T>A NCBI36
NG_009176.1:g.23259A>T
NG_009176.2:g.23259A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.828+3A>T MANE Select ENSP00000230381.5:n.828+3A>T
ENST00000230381.6:c.828+3A>T ENSP00000230381.5:n.828+3A>T
NM_000322.4:c.828+3A>T NP_000313.2:n.828+3A>T
XR_427834.2:n.1483+3A>T
XR_427834.4:n.1533+3A>T
XR_926295.3:n.1715+3A>T
NM_000322.5:c.828+3A>T MANE Select NP_000313.2:n.828+3A>T
Search 100 bp 5'
Search 100 bp 3'