Canonical Allele Identifier: CA364134950
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1203189231
gnomAD v2: 6-42672177-C-A
gnomAD v4: 6-42704439-C-A
MyVariant Identifiers: chr6:g.42672177C>A (hg19) chr6:g.42704439C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704439C>A , CM000668.2:g.42704439C>A GRCh38
NC_000006.11:g.42672177C>A , CM000668.1:g.42672177C>A GRCh37
NC_000006.10:g.42780155C>A NCBI36
NG_009176.1:g.23182G>T
NG_009176.2:g.23182G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.754G>T MANE Select ENSP00000230381.5:p.Ala252Ser
ENST00000230381.6:c.754G>T ENSP00000230381.5:p.Ala252Ser
NM_000322.4:c.754G>T NP_000313.2:p.Ala252Ser
XR_427834.2:n.1409G>T
XR_427834.4:n.1459G>T
XR_926295.3:n.1641G>T
NM_000322.5:c.754G>T MANE Select NP_000313.2:p.Ala252Ser
Search 100 bp 5'
Search 100 bp 3'