Canonical Allele Identifier: CA226235

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98668
• ClinVar RCV Id: RCV000084972 ; RCV001003148 ; RCV001250322 ; RCV001854487
• dbSNP Id: rs61755784
• ExAC: 6:42689631 CA / C
• gnomAD v2: 6-42689631-CA-C
• gnomAD v4: 6-42721893-CA-C
• MyVariant Identifiers: chr6:g.42689632del (hg19) ; chr6:g.42721894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721894del , CM000668.2:g.42721894del	GRCh38
NC_000006.11:g.42689632del , CM000668.1:g.42689632del	GRCh37
NC_000006.10:g.42797610del	NCBI36
NG_009176.1:g.5727del
NG_009176.2:g.5727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.441del MANE Select	ENSP00000230381.5:p.Gly148AlafsTer5
ENST00000230381.6:c.441del	ENSP00000230381.5:p.Gly148AlafsTer5
NM_000322.4:c.441del	NP_000313.2:p.Gly148AlafsTer5
XR_427834.2:n.1096del
XR_926295.1:n.1096del
XR_427834.4:n.1146del
XR_926295.3:n.1146del
NM_000322.5:c.441del MANE Select	NP_000313.2:p.Gly148AlafsTer5