Canonical Allele Identifier: CA364138814
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1267248603
gnomAD v2: 6-42689995-G-T
gnomAD v3: 6-42722257-G-T
gnomAD v4: 6-42722257-G-T
COSMIC: COSM1079355
MyVariant Identifiers: chr6:g.42689995G>T (hg19) chr6:g.42722257G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722257G>T , CM000668.2:g.42722257G>T GRCh38
NC_000006.11:g.42689995G>T , CM000668.1:g.42689995G>T GRCh37
NC_000006.10:g.42797973G>T NCBI36
NG_009176.1:g.5364C>A
NG_009176.2:g.5364C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.78C>A MANE Select ENSP00000230381.5:p.Phe26Leu
ENST00000230381.6:c.78C>A ENSP00000230381.5:p.Phe26Leu
NM_000322.4:c.78C>A NP_000313.2:p.Phe26Leu
XR_427834.2:n.733C>A
XR_926295.1:n.733C>A
XR_427834.4:n.783C>A
XR_926295.3:n.783C>A
NM_000322.5:c.78C>A MANE Select NP_000313.2:p.Phe26Leu
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