Canonical Allele Identifier: CA16609676
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175280
ClinVar RCV Id: RCV001530340 RCV001873758
dbSNP Id: rs2152010930
gnomAD v4: 6-42721878-T-C
MyVariant Identifiers: chr6:g.42689616T>C (hg19) chr6:g.42721878T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721878T>C , CM000668.2:g.42721878T>C GRCh38
NC_000006.11:g.42689616T>C , CM000668.1:g.42689616T>C GRCh37
NC_000006.10:g.42797594T>C NCBI36
NG_009176.1:g.5743A>G
NG_009176.2:g.5743A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.457A>G MANE Select ENSP00000230381.5:p.Lys153Glu
ENST00000230381.6:c.457A>G ENSP00000230381.5:p.Lys153Glu
NM_000322.4:c.457A>G NP_000313.2:p.Lys153Glu
XR_427834.2:n.1112A>G
XR_926295.1:n.1112A>G
XR_427834.4:n.1162A>G
XR_926295.3:n.1162A>G
NM_000322.5:c.457A>G MANE Select NP_000313.2:p.Lys153Glu
Search 100 bp 5'
Search 100 bp 3'