Canonical Allele Identifier: CA3808563

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356777
• ClinVar RCV Id: RCV000271221 ; RCV000267701 ; RCV000311099 ; RCV000326330 ; RCV000362139 ; RCV000365732 ; RCV001250375 ; RCV001318786 ; RCV001530369
• dbSNP Id: rs767471467
• ExAC: 6:42672282 T / C
• gnomAD v2: 6-42672282-T-C
• gnomAD v3: 6-42704544-T-C
• gnomAD v4: 6-42704544-T-C
• MyVariant Identifiers: chr6:g.42672282T>C (hg19) ; chr6:g.42704544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704544T>C , CM000668.2:g.42704544T>C	GRCh38
NC_000006.11:g.42672282T>C , CM000668.1:g.42672282T>C	GRCh37
NC_000006.10:g.42780260T>C	NCBI36
NG_009176.1:g.23077A>G
NG_009176.2:g.23077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.649A>G MANE Select	ENSP00000230381.5:p.Ser217Gly
ENST00000230381.6:c.649A>G	ENSP00000230381.5:p.Ser217Gly
NM_000322.4:c.649A>G	NP_000313.2:p.Ser217Gly
XR_427834.2:n.1304A>G
XR_926295.1:n.1486A>G
XR_427834.4:n.1354A>G
XR_926295.3:n.1536A>G
NM_000322.5:c.649A>G MANE Select	NP_000313.2:p.Ser217Gly