Canonical Allele Identifier: CA3808639

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 1175215
• ClinVar RCV Id: RCV001530220 ; RCV001873749 ; RCV003888295
• dbSNP Id: rs768400169
• ExAC: 6:42689774 G / A
• gnomAD v2: 6-42689774-G-A
• gnomAD v3: 6-42722036-G-A
• gnomAD v4: 6-42722036-G-A
• COSMIC: COSM5870672
• MyVariant Identifiers: chr6:g.42689774G>A (hg19) ; chr6:g.42722036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722036G>A , CM000668.2:g.42722036G>A	GRCh38
NC_000006.11:g.42689774G>A , CM000668.1:g.42689774G>A	GRCh37
NC_000006.10:g.42797752G>A	NCBI36
NG_009176.1:g.5585C>T
NG_009176.2:g.5585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.299C>T MANE Select	ENSP00000230381.5:p.Pro100Leu
ENST00000230381.6:c.299C>T	ENSP00000230381.5:p.Pro100Leu
NM_000322.4:c.299C>T	NP_000313.2:p.Pro100Leu
XR_427834.2:n.954C>T
XR_926295.1:n.954C>T
XR_427834.4:n.1004C>T
XR_926295.3:n.1004C>T
NM_000322.5:c.299C>T MANE Select	NP_000313.2:p.Pro100Leu