Canonical Allele Identifier: CA10623957

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356774
• ClinVar RCV Id: RCV000278954 ; RCV000294300 ; RCV000329062 ; RCV000351505 ; RCV000389713 ; RCV000385989 ; RCV001712162
• dbSNP Id: rs77363417
• gnomAD v2: 6-42665901-G-A
• gnomAD v3: 6-42698163-G-A
• gnomAD v4: 6-42698163-G-A
• MyVariant Identifiers: chr6:g.42665901G>A (hg19) ; chr6:g.42698163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698163G>A , CM000668.2:g.42698163G>A	GRCh38
NC_000006.11:g.42665901G>A , CM000668.1:g.42665901G>A	GRCh37
NC_000006.10:g.42773879G>A	NCBI36
NG_009176.1:g.29458C>T
NG_009176.2:g.29458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*132C>T MANE Select	ENSP00000230381.5:n.*132C>T
ENST00000230381.6:c.*132C>T	ENSP00000230381.5:n.*132C>T
NM_000322.4:c.*132C>T	NP_000313.2:n.*132C>T
XR_926295.3:n.2060C>T
NM_000322.5:c.*132C>T MANE Select	NP_000313.2:n.*132C>T