Canonical Allele Identifier: CA10623954

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356769
• ClinVar RCV Id: RCV000277397 ; RCV000317407 ; RCV000312629 ; RCV000355799 ; RCV000369570 ; RCV000404297 ; RCV001613184
• dbSNP Id: rs76754927
• gnomAD v2: 6-42665757-C-G
• gnomAD v3: 6-42698019-C-G
• gnomAD v4: 6-42698019-C-G
• MyVariant Identifiers: chr6:g.42665757C>G (hg19) ; chr6:g.42698019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698019C>G , CM000668.2:g.42698019C>G	GRCh38
NC_000006.11:g.42665757C>G , CM000668.1:g.42665757C>G	GRCh37
NC_000006.10:g.42773735C>G	NCBI36
NG_009176.1:g.29602G>C
NG_009176.2:g.29602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*276G>C MANE Select	ENSP00000230381.5:n.*276G>C
ENST00000230381.6:c.*276G>C	ENSP00000230381.5:n.*276G>C
NM_000322.4:c.*276G>C	NP_000313.2:n.*276G>C
XR_926295.3:n.2204G>C
NM_000322.5:c.*276G>C MANE Select	NP_000313.2:n.*276G>C