Canonical Allele Identifier: CA824851800
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1344376590
gnomAD v3: 6-42722406-G-A
gnomAD v4: 6-42722406-G-A
MyVariant Identifiers: chr6:g.42690144G>A (hg19) chr6:g.42722406G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722406G>A , CM000668.2:g.42722406G>A GRCh38
NC_000006.11:g.42690144G>A , CM000668.1:g.42690144G>A GRCh37
NC_000006.10:g.42798122G>A NCBI36
NG_009176.1:g.5215C>T
NG_009176.2:g.5215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-72C>T MANE Select ENSP00000230381.5:n.-72C>T
ENST00000230381.6:c.-72C>T ENSP00000230381.5:n.-72C>T
NM_000322.4:c.-72C>T NP_000313.2:n.-72C>T
XR_427834.2:n.584C>T
XR_926295.1:n.584C>T
XR_427834.4:n.634C>T
XR_926295.3:n.634C>T
NM_000322.5:c.-72C>T MANE Select NP_000313.2:n.-72C>T
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