Canonical Allele Identifier: CA364138977
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs761320905
gnomAD v2: 6-42690068-G-T
gnomAD v4: 6-42722330-G-T
MyVariant Identifiers: chr6:g.42690068G>T (hg19) chr6:g.42722330G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722330G>T , CM000668.2:g.42722330G>T GRCh38
NC_000006.11:g.42690068G>T , CM000668.1:g.42690068G>T GRCh37
NC_000006.10:g.42798046G>T NCBI36
NG_009176.1:g.5291C>A
NG_009176.2:g.5291C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.5C>A MANE Select ENSP00000230381.5:p.Ala2Glu
ENST00000230381.6:c.5C>A ENSP00000230381.5:p.Ala2Glu
NM_000322.4:c.5C>A NP_000313.2:p.Ala2Glu
XR_427834.2:n.660C>A
XR_926295.1:n.660C>A
XR_427834.4:n.710C>A
XR_926295.3:n.710C>A
NM_000322.5:c.5C>A MANE Select NP_000313.2:p.Ala2Glu
Search 100 bp 5'
Search 100 bp 3'