Canonical Allele Identifier: CA364138986
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175236
ClinVar RCV Id: RCV001530268 RCV002568885
dbSNP Id: rs1761921867
MyVariant Identifiers: chr6:g.42690072T>A (hg19) chr6:g.42722334T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722334T>A , CM000668.2:g.42722334T>A GRCh38
NC_000006.11:g.42690072T>A , CM000668.1:g.42690072T>A GRCh37
NC_000006.10:g.42798050T>A NCBI36
NG_009176.1:g.5287A>T
NG_009176.2:g.5287A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.1A>T MANE Select ENSP00000230381.5:p.Met1Leu
ENST00000230381.6:c.1A>T ENSP00000230381.5:p.Met1Leu
NM_000322.4:c.1A>T NP_000313.2:p.Met1Leu
XR_427834.2:n.656A>T
XR_926295.1:n.656A>T
XR_427834.4:n.706A>T
XR_926295.3:n.706A>T
NM_000322.5:c.1A>T MANE Select NP_000313.2:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'