Canonical Allele Identifier: CA226331

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98721
• ClinVar RCV Id: RCV000085034 ; RCV000261808 ; RCV000301680 ; RCV000406549 ; RCV000298015 ; RCV000356624 ; RCV000787872 ; RCV001066591 ; RCV001250365 ; RCV001250366
• dbSNP Id: rs61748434
• ExAC: 6:42666136 G / A
• gnomAD v2: 6-42666136-G-A
• gnomAD v3: 6-42698398-G-A
• gnomAD v4: 6-42698398-G-A
• MyVariant Identifiers: chr6:g.42666136G>A (hg19) ; chr6:g.42698398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698398G>A , CM000668.2:g.42698398G>A	GRCh38
NC_000006.11:g.42666136G>A , CM000668.1:g.42666136G>A	GRCh37
NC_000006.10:g.42774114G>A	NCBI36
NG_009176.1:g.29223C>T
NG_009176.2:g.29223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.938C>T MANE Select	ENSP00000230381.5:p.Pro313Leu
ENST00000230381.6:c.938C>T	ENSP00000230381.5:p.Pro313Leu
NM_000322.4:c.938C>T	NP_000313.2:p.Pro313Leu
XR_926295.3:n.1825C>T
NM_000322.5:c.938C>T MANE Select	NP_000313.2:p.Pro313Leu