Canonical Allele Identifier: CA450362607
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1153283
ClinVar RCV Id: RCV001494925
dbSNP Id: rs1294407459
gnomAD v2: 6-42689809-T-G
gnomAD v3: 6-42722071-T-G
gnomAD v4: 6-42722071-T-G
MyVariant Identifiers: chr6:g.42689809T>G (hg19) chr6:g.42722071T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722071T>G , CM000668.2:g.42722071T>G GRCh38
NC_000006.11:g.42689809T>G , CM000668.1:g.42689809T>G GRCh37
NC_000006.10:g.42797787T>G NCBI36
NG_009176.1:g.5550A>C
NG_009176.2:g.5550A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.264A>C MANE Select ENSP00000230381.5:p.Pro88=
ENST00000230381.6:c.264A>C ENSP00000230381.5:p.Pro88=
NM_000322.4:c.264A>C NP_000313.2:p.Pro88=
XR_427834.2:n.919A>C
XR_926295.1:n.919A>C
XR_427834.4:n.969A>C
XR_926295.3:n.969A>C
NM_000322.5:c.264A>C MANE Select NP_000313.2:p.Pro88=
Search 100 bp 5'
Search 100 bp 3'