Canonical Allele Identifier: CA122928

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 13165
• ClinVar RCV Id: RCV000014051 ; RCV000084987 ; RCV000149464 ; RCV000149466 ; RCV001075516 ; RCV001378481 ; RCV001530305 ; RCV001250378
• dbSNP Id: rs121918563
• gnomAD v2: 6-42689519-A-G
• gnomAD v3: 6-42721781-A-G
• gnomAD v4: 6-42721781-A-G
• MyVariant Identifiers: chr6:g.42689519A>G (hg19) ; chr6:g.42721781A>G (hg38)
• PubMed: PMID:1684223 ; PMID:8202715 ; PMID:11297544 ; PMID:23847139

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721781A>G , CM000668.2:g.42721781A>G	GRCh38
NC_000006.11:g.42689519A>G , CM000668.1:g.42689519A>G	GRCh37
NC_000006.10:g.42797497A>G	NCBI36
NG_009176.1:g.5840T>C
NG_009176.2:g.5840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.554T>C MANE Select	ENSP00000230381.5:p.Leu185Pro
ENST00000230381.6:c.554T>C	ENSP00000230381.5:p.Leu185Pro
NM_000322.4:c.554T>C	NP_000313.2:p.Leu185Pro
XR_427834.2:n.1209T>C
XR_926295.1:n.1209T>C
XR_427834.4:n.1259T>C
XR_926295.3:n.1259T>C
NM_000322.5:c.554T>C MANE Select	NP_000313.2:p.Leu185Pro