Canonical Allele Identifier: CA238587

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 193083
• ClinVar RCV Id: RCV000173108 ; RCV001232080 ; RCV001250296 ; RCV001250295
• dbSNP Id: rs747893076
• ExAC: 6:42689802 A / T
• gnomAD v2: 6-42689802-A-T
• gnomAD v3: 6-42722064-A-T
• gnomAD v4: 6-42722064-A-T
• MyVariant Identifiers: chr6:g.42689802A>T (hg19) ; chr6:g.42722064A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722064A>T , CM000668.2:g.42722064A>T	GRCh38
NC_000006.11:g.42689802A>T , CM000668.1:g.42689802A>T	GRCh37
NC_000006.10:g.42797780A>T	NCBI36
NG_009176.1:g.5557T>A
NG_009176.2:g.5557T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.271T>A MANE Select	ENSP00000230381.5:p.Tyr91Asn
ENST00000230381.6:c.271T>A	ENSP00000230381.5:p.Tyr91Asn
NM_000322.4:c.271T>A	NP_000313.2:p.Tyr91Asn
XR_427834.2:n.926T>A
XR_926295.1:n.926T>A
XR_427834.4:n.976T>A
XR_926295.3:n.976T>A
NM_000322.5:c.271T>A MANE Select	NP_000313.2:p.Tyr91Asn