Canonical Allele Identifier: CA185988

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98666
• ClinVar RCV Id: RCV000084969 ; RCV000161145 ; RCV001051727 ; RCV001074856 ; RCV001250317 ; RCV001353037 ; RCV001723663 ; RCV001250316 ; RCV002508140 ; RCV001250306
• dbSNP Id: rs61755781
• gnomAD v4: 6-42721913-T-C
• MyVariant Identifiers: chr6:g.42689651T>C (hg19) ; chr6:g.42721913T>C (hg38)
• PubMed: PMID:15370544 ; PMID:22466463 ; PMID:25001182

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721913T>C , CM000668.2:g.42721913T>C	GRCh38
NC_000006.11:g.42689651T>C , CM000668.1:g.42689651T>C	GRCh37
NC_000006.10:g.42797629T>C	NCBI36
NG_009176.1:g.5708A>G
NG_009176.2:g.5708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.422A>G MANE Select	ENSP00000230381.5:p.Tyr141Cys
ENST00000230381.6:c.422A>G	ENSP00000230381.5:p.Tyr141Cys
NM_000322.4:c.422A>G	NP_000313.2:p.Tyr141Cys
XR_427834.2:n.1077A>G
XR_926295.1:n.1077A>G
XR_427834.4:n.1127A>G
XR_926295.3:n.1127A>G
NM_000322.5:c.422A>G MANE Select	NP_000313.2:p.Tyr141Cys