Canonical Allele Identifier: CA226322

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98715
• ClinVar RCV Id: RCV000085028 ; RCV001161271 ; RCV001250360 ; RCV001438086
• dbSNP Id: rs62645939
• ExAC: 6:42666208 G / A
• gnomAD v2: 6-42666208-G-A
• gnomAD v3: 6-42698470-G-A
• gnomAD v4: 6-42698470-G-A
• MyVariant Identifiers: chr6:g.42666208G>A (hg19) ; chr6:g.42698470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698470G>A , CM000668.2:g.42698470G>A	GRCh38
NC_000006.11:g.42666208G>A , CM000668.1:g.42666208G>A	GRCh37
NC_000006.10:g.42774186G>A	NCBI36
NG_009176.1:g.29151C>T
NG_009176.2:g.29151C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.866C>T MANE Select	ENSP00000230381.5:p.Ser289Leu
ENST00000230381.6:c.866C>T	ENSP00000230381.5:p.Ser289Leu
NM_000322.4:c.866C>T	NP_000313.2:p.Ser289Leu
XR_427834.2:n.1674C>T
XR_427834.4:n.1724C>T
XR_926295.3:n.1753C>T
NM_000322.5:c.866C>T MANE Select	NP_000313.2:p.Ser289Leu