Canonical Allele Identifier: CA450362565
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1928609
ClinVar RCV Id: RCV002635059
gnomAD v4: 6-42721999-G-A
MyVariant Identifiers: chr6:g.42689737G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721999G>A , CM000668.2:g.42721999G>A GRCh38
NC_000006.11:g.42689737G>A , CM000668.1:g.42689737G>A GRCh37
NC_000006.10:g.42797715G>A NCBI36
NG_009176.1:g.5622C>T
NG_009176.2:g.5622C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.336C>T MANE Select ENSP00000230381.5:p.Leu112=
ENST00000230381.6:c.336C>T ENSP00000230381.5:p.Leu112=
NM_000322.4:c.336C>T NP_000313.2:p.Leu112=
XR_427834.2:n.991C>T
XR_926295.1:n.991C>T
XR_427834.4:n.1041C>T
XR_926295.3:n.1041C>T
NM_000322.5:c.336C>T MANE Select NP_000313.2:p.Leu112=
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