Canonical Allele Identifier: CA3808685
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs752758993
ExAC: 6:42690090 C / T
gnomAD v2: 6-42690090-C-T
gnomAD v3: 6-42722352-C-T
gnomAD v4: 6-42722352-C-T
MyVariant Identifiers: chr6:g.42690090C>T (hg19) chr6:g.42722352C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722352C>T , CM000668.2:g.42722352C>T GRCh38
NC_000006.11:g.42690090C>T , CM000668.1:g.42690090C>T GRCh37
NC_000006.10:g.42798068C>T NCBI36
NG_009176.1:g.5269G>A
NG_009176.2:g.5269G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-18G>A MANE Select ENSP00000230381.5:n.-18G>A
ENST00000230381.6:c.-18G>A ENSP00000230381.5:n.-18G>A
NM_000322.4:c.-18G>A NP_000313.2:n.-18G>A
XR_427834.2:n.638G>A
XR_926295.1:n.638G>A
XR_427834.4:n.688G>A
XR_926295.3:n.688G>A
NM_000322.5:c.-18G>A MANE Select NP_000313.2:n.-18G>A
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