Canonical Allele Identifier: CA3808568

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 437965
• ClinVar RCV Id: RCV000787665 ; RCV000504827 ; RCV001051123 ; RCV001074827 ; RCV002248741 ; RCV001250285 ; RCV001530240
• dbSNP Id: rs139185976
• ExAC: 6:42672308 C / T
• gnomAD v2: 6-42672308-C-T
• gnomAD v3: 6-42704570-C-T
• gnomAD v4: 6-42704570-C-T
• MyVariant Identifiers: chr6:g.42672308C>T (hg19) ; chr6:g.42704570C>T (hg38)
• PubMed: PMID:9279751 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704570C>T , CM000668.2:g.42704570C>T	GRCh38
NC_000006.11:g.42672308C>T , CM000668.1:g.42672308C>T	GRCh37
NC_000006.10:g.42780286C>T	NCBI36
NG_009176.1:g.23051G>A
NG_009176.2:g.23051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.623G>A MANE Select	ENSP00000230381.5:p.Gly208Asp
ENST00000230381.6:c.623G>A	ENSP00000230381.5:p.Gly208Asp
NM_000322.4:c.623G>A	NP_000313.2:p.Gly208Asp
XR_427834.2:n.1278G>A
XR_926295.1:n.1460G>A
XR_427834.4:n.1328G>A
XR_926295.3:n.1510G>A
NM_000322.5:c.623G>A MANE Select	NP_000313.2:p.Gly208Asp