Canonical Allele Identifier: CA3808671
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs758336829
ExAC: 6:42690020 T / C
gnomAD v2: 6-42690020-T-C
gnomAD v3: 6-42722282-T-C
gnomAD v4: 6-42722282-T-C
COSMIC: COSM1444576
MyVariant Identifiers: chr6:g.42690020T>C (hg19) chr6:g.42722282T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722282T>C , CM000668.2:g.42722282T>C GRCh38
NC_000006.11:g.42690020T>C , CM000668.1:g.42690020T>C GRCh37
NC_000006.10:g.42797998T>C NCBI36
NG_009176.1:g.5339A>G
NG_009176.2:g.5339A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.53A>G MANE Select ENSP00000230381.5:p.Gln18Arg
ENST00000230381.6:c.53A>G ENSP00000230381.5:p.Gln18Arg
NM_000322.4:c.53A>G NP_000313.2:p.Gln18Arg
XR_427834.2:n.708A>G
XR_926295.1:n.708A>G
XR_427834.4:n.758A>G
XR_926295.3:n.758A>G
NM_000322.5:c.53A>G MANE Select NP_000313.2:p.Gln18Arg
Search 100 bp 5'
Search 100 bp 3'