Canonical Allele Identifier: CA450244476
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1010319015
gnomAD v3: 6-42722275-G-C
gnomAD v4: 6-42722275-G-C
MyVariant Identifiers: chr6:g.42690013G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722275G>C , CM000668.2:g.42722275G>C GRCh38
NC_000006.11:g.42690013G>C , CM000668.1:g.42690013G>C GRCh37
NC_000006.10:g.42797991G>C NCBI36
NG_009176.1:g.5346C>G
NG_009176.2:g.5346C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.60C>G MANE Select ENSP00000230381.5:p.Leu20=
ENST00000230381.6:c.60C>G ENSP00000230381.5:p.Leu20=
NM_000322.4:c.60C>G NP_000313.2:p.Leu20=
XR_427834.2:n.715C>G
XR_926295.1:n.715C>G
XR_427834.4:n.765C>G
XR_926295.3:n.765C>G
NM_000322.5:c.60C>G MANE Select NP_000313.2:p.Leu20=
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