Canonical Allele Identifier: CA3808667

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 858947
• ClinVar RCV Id: RCV001064940 ; RCV001250339 ; RCV001530275
• dbSNP Id: rs146686238
• ExAC: 6:42689998 C / G
• gnomAD v2: 6-42689998-C-G
• gnomAD v3: 6-42722260-C-G
• gnomAD v4: 6-42722260-C-G
• MyVariant Identifiers: chr6:g.42689998C>G (hg19) ; chr6:g.42722260C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722260C>G , CM000668.2:g.42722260C>G	GRCh38
NC_000006.11:g.42689998C>G , CM000668.1:g.42689998C>G	GRCh37
NC_000006.10:g.42797976C>G	NCBI36
NG_009176.1:g.5361G>C
NG_009176.2:g.5361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.75G>C MANE Select	ENSP00000230381.5:p.Trp25Cys
ENST00000230381.6:c.75G>C	ENSP00000230381.5:p.Trp25Cys
NM_000322.4:c.75G>C	NP_000313.2:p.Trp25Cys
XR_427834.2:n.730G>C
XR_926295.1:n.730G>C
XR_427834.4:n.780G>C
XR_926295.3:n.780G>C
NM_000322.5:c.75G>C MANE Select	NP_000313.2:p.Trp25Cys