Canonical Allele Identifier: CA364137750
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1021260
ClinVar RCV Id: RCV001320994
dbSNP Id: rs1365796838
MyVariant Identifiers: chr6:g.42689726G>T (hg19) chr6:g.42721988G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721988G>T , CM000668.2:g.42721988G>T GRCh38
NC_000006.11:g.42689726G>T , CM000668.1:g.42689726G>T GRCh37
NC_000006.10:g.42797704G>T NCBI36
NG_009176.1:g.5633C>A
NG_009176.2:g.5633C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.347C>A MANE Select ENSP00000230381.5:p.Ala116Asp
ENST00000230381.6:c.347C>A ENSP00000230381.5:p.Ala116Asp
NM_000322.4:c.347C>A NP_000313.2:p.Ala116Asp
XR_427834.2:n.1002C>A
XR_926295.1:n.1002C>A
XR_427834.4:n.1052C>A
XR_926295.3:n.1052C>A
NM_000322.5:c.347C>A MANE Select NP_000313.2:p.Ala116Asp
Search 100 bp 5'
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