Canonical Allele Identifier: CA3808693
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs779541654
ExAC: 6:42690121 C / A
gnomAD v2: 6-42690121-C-A
gnomAD v4: 6-42722383-C-A
MyVariant Identifiers: chr6:g.42690121C>A (hg19) chr6:g.42722383C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722383C>A , CM000668.2:g.42722383C>A GRCh38
NC_000006.11:g.42690121C>A , CM000668.1:g.42690121C>A GRCh37
NC_000006.10:g.42798099C>A NCBI36
NG_009176.1:g.5238G>T
NG_009176.2:g.5238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-49G>T MANE Select ENSP00000230381.5:n.-49G>T
ENST00000230381.6:c.-49G>T ENSP00000230381.5:n.-49G>T
NM_000322.4:c.-49G>T NP_000313.2:n.-49G>T
XR_427834.2:n.607G>T
XR_926295.1:n.607G>T
XR_427834.4:n.657G>T
XR_926295.3:n.657G>T
NM_000322.5:c.-49G>T MANE Select NP_000313.2:n.-49G>T
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