Canonical Allele Identifier: CA364138014
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1167627551
gnomAD v4: 6-42722048-G-A
MyVariant Identifiers: chr6:g.42689786G>A (hg19) chr6:g.42722048G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722048G>A , CM000668.2:g.42722048G>A GRCh38
NC_000006.11:g.42689786G>A , CM000668.1:g.42689786G>A GRCh37
NC_000006.10:g.42797764G>A NCBI36
NG_009176.1:g.5573C>T
NG_009176.2:g.5573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.287C>T MANE Select ENSP00000230381.5:p.Pro96Leu
ENST00000230381.6:c.287C>T ENSP00000230381.5:p.Pro96Leu
NM_000322.4:c.287C>T NP_000313.2:p.Pro96Leu
XR_427834.2:n.942C>T
XR_926295.1:n.942C>T
XR_427834.4:n.992C>T
XR_926295.3:n.992C>T
NM_000322.5:c.287C>T MANE Select NP_000313.2:p.Pro96Leu
Search 100 bp 5'
Search 100 bp 3'