Canonical Allele Identifier: CA226333

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98722
• ClinVar RCV Id: RCV000085036 ; RCV001462596 ; RCV001530276 ; RCV001250380 ; RCV001352968 ; RCV003888461
• dbSNP Id: rs61755767
• ExAC: 6:42689979 T / C
• gnomAD v2: 6-42689979-T-C
• gnomAD v3: 6-42722241-T-C
• gnomAD v4: 6-42722241-T-C
• MyVariant Identifiers: chr6:g.42689979T>C (hg19) ; chr6:g.42722241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722241T>C , CM000668.2:g.42722241T>C	GRCh38
NC_000006.11:g.42689979T>C , CM000668.1:g.42689979T>C	GRCh37
NC_000006.10:g.42797957T>C	NCBI36
NG_009176.1:g.5380A>G
NG_009176.2:g.5380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.94A>G MANE Select	ENSP00000230381.5:p.Ile32Val
ENST00000230381.6:c.94A>G	ENSP00000230381.5:p.Ile32Val
NM_000322.4:c.94A>G	NP_000313.2:p.Ile32Val
XR_427834.2:n.749A>G
XR_926295.1:n.749A>G
XR_427834.4:n.799A>G
XR_926295.3:n.799A>G
NM_000322.5:c.94A>G MANE Select	NP_000313.2:p.Ile32Val