Canonical Allele Identifier: CA364135391
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1963740
ClinVar RCV Id: RCV002716125
dbSNP Id: rs1201312863
gnomAD v2: 6-42672257-T-C
gnomAD v4: 6-42704519-T-C
MyVariant Identifiers: chr6:g.42672257T>C (hg19) chr6:g.42704519T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704519T>C , CM000668.2:g.42704519T>C GRCh38
NC_000006.11:g.42672257T>C , CM000668.1:g.42672257T>C GRCh37
NC_000006.10:g.42780235T>C NCBI36
NG_009176.1:g.23102A>G
NG_009176.2:g.23102A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.674A>G MANE Select ENSP00000230381.5:p.Tyr225Cys
ENST00000230381.6:c.674A>G ENSP00000230381.5:p.Tyr225Cys
NM_000322.4:c.674A>G NP_000313.2:p.Tyr225Cys
XR_427834.2:n.1329A>G
XR_427834.4:n.1379A>G
XR_926295.3:n.1561A>G
NM_000322.5:c.674A>G MANE Select NP_000313.2:p.Tyr225Cys
Search 100 bp 5'
Search 100 bp 3'