Canonical Allele Identifier: CA10626754

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356750
• ClinVar RCV Id: RCV000260087 ; RCV000266179 ; RCV000320957 ; RCV000320017 ; RCV000374671 ; RCV000380174 ; RCV001683418
• dbSNP Id: rs405059
• gnomAD v2: 6-42664676-G-A
• gnomAD v3: 6-42696938-G-A
• gnomAD v4: 6-42696938-G-A
• MyVariant Identifiers: chr6:g.42664676G>A (hg19) ; chr6:g.42696938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42696938G>A , CM000668.2:g.42696938G>A	GRCh38
NC_000006.11:g.42664676G>A , CM000668.1:g.42664676G>A	GRCh37
NC_000006.10:g.42772654G>A	NCBI36
NG_009176.1:g.30683C>T
NG_009176.2:g.30683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*1357C>T MANE Select	ENSP00000230381.5:n.*1357C>T
ENST00000230381.6:c.*1357C>T	ENSP00000230381.5:n.*1357C>T
NM_000322.4:c.*1357C>T	NP_000313.2:n.*1357C>T
XR_926295.3:n.3285C>T
NM_000322.5:c.*1357C>T MANE Select	NP_000313.2:n.*1357C>T