Canonical Allele Identifier: CA10623892

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356743
• ClinVar RCV Id: RCV000265951 ; RCV000288235 ; RCV000324365 ; RCV000328104 ; RCV000358091 ; RCV000384861
• dbSNP Id: rs139177846
• gnomAD v2: 6-42664346-G-A
• gnomAD v3: 6-42696608-G-A
• gnomAD v4: 6-42696608-G-A
• MyVariant Identifiers: chr6:g.42664346G>A (hg19) ; chr6:g.42696608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42696608G>A , CM000668.2:g.42696608G>A	GRCh38
NC_000006.11:g.42664346G>A , CM000668.1:g.42664346G>A	GRCh37
NC_000006.10:g.42772324G>A	NCBI36
NG_009176.1:g.31013C>T
NG_009176.2:g.31013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*1687C>T MANE Select	ENSP00000230381.5:n.*1687C>T
ENST00000230381.6:c.*1687C>T	ENSP00000230381.5:n.*1687C>T
NM_000322.4:c.*1687C>T	NP_000313.2:n.*1687C>T
XR_926295.3:n.3615C>T
NM_000322.5:c.*1687C>T MANE Select	NP_000313.2:n.*1687C>T