Canonical Allele Identifier: CA226277

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98692
• ClinVar RCV Id: RCV000085003 ; RCV001052017 ; RCV001074371 ; RCV001250308 ; RCV001542667
• dbSNP Id: rs61755803
• gnomAD v3: 6-42704555-C-T
• gnomAD v4: 6-42704555-C-T
• MyVariant Identifiers: chr6:g.42672293C>T (hg19) ; chr6:g.42704555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704555C>T , CM000668.2:g.42704555C>T	GRCh38
NC_000006.11:g.42672293C>T , CM000668.1:g.42672293C>T	GRCh37
NC_000006.10:g.42780271C>T	NCBI36
NG_009176.1:g.23066G>A
NG_009176.2:g.23066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.638G>A MANE Select	ENSP00000230381.5:p.Cys213Tyr
ENST00000230381.6:c.638G>A	ENSP00000230381.5:p.Cys213Tyr
NM_000322.4:c.638G>A	NP_000313.2:p.Cys213Tyr
XR_427834.2:n.1293G>A
XR_926295.1:n.1475G>A
XR_427834.4:n.1343G>A
XR_926295.3:n.1525G>A
NM_000322.5:c.638G>A MANE Select	NP_000313.2:p.Cys213Tyr