Canonical Allele Identifier: CA3808450

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356775
• ClinVar RCV Id: RCV000301789 ; RCV000305101 ; RCV000336826 ; RCV000340291 ; RCV000393145 ; RCV000403264
• dbSNP Id: rs180775924
• ExAC: 6:42666013 G / A
• gnomAD v2: 6-42666013-G-A
• gnomAD v3: 6-42698275-G-A
• gnomAD v4: 6-42698275-G-A
• MyVariant Identifiers: chr6:g.42666013G>A (hg19) ; chr6:g.42698275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42698275G>A , CM000668.2:g.42698275G>A	GRCh38
NC_000006.11:g.42666013G>A , CM000668.1:g.42666013G>A	GRCh37
NC_000006.10:g.42773991G>A	NCBI36
NG_009176.1:g.29346C>T
NG_009176.2:g.29346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*20C>T MANE Select	ENSP00000230381.5:n.*20C>T
ENST00000230381.6:c.*20C>T	ENSP00000230381.5:n.*20C>T
NM_000322.4:c.*20C>T	NP_000313.2:n.*20C>T
XR_926295.3:n.1948C>T
NM_000322.5:c.*20C>T MANE Select	NP_000313.2:n.*20C>T