Canonical Allele Identifier: CA364138899
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1761920637
gnomAD v3: 6-42722295-C-A
gnomAD v4: 6-42722295-C-A
MyVariant Identifiers: chr6:g.42690033C>A (hg19) chr6:g.42722295C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722295C>A , CM000668.2:g.42722295C>A GRCh38
NC_000006.11:g.42690033C>A , CM000668.1:g.42690033C>A GRCh37
NC_000006.10:g.42798011C>A NCBI36
NG_009176.1:g.5326G>T
NG_009176.2:g.5326G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.40G>T MANE Select ENSP00000230381.5:p.Val14Phe
ENST00000230381.6:c.40G>T ENSP00000230381.5:p.Val14Phe
NM_000322.4:c.40G>T NP_000313.2:p.Val14Phe
XR_427834.2:n.695G>T
XR_926295.1:n.695G>T
XR_427834.4:n.745G>T
XR_926295.3:n.745G>T
NM_000322.5:c.40G>T MANE Select NP_000313.2:p.Val14Phe
Search 100 bp 5'
Search 100 bp 3'