Canonical Allele Identifier: CA226285

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 13164
• ClinVar RCV Id: RCV000014050 ; RCV000085007 ; RCV001003142 ; RCV001250376 ; RCV001075781 ; RCV001063368
• dbSNP Id: rs61755806
• gnomAD v2: 6-42672284-G-A
• gnomAD v4: 6-42704546-G-A
• MyVariant Identifiers: chr6:g.42672284G>A (hg19) ; chr6:g.42704546G>A (hg38)
• PubMed: PMID:1684223

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704546G>A , CM000668.2:g.42704546G>A	GRCh38
NC_000006.11:g.42672284G>A , CM000668.1:g.42672284G>A	GRCh37
NC_000006.10:g.42780262G>A	NCBI36
NG_009176.1:g.23075C>T
NG_009176.2:g.23075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.647C>T MANE Select	ENSP00000230381.5:p.Pro216Leu
ENST00000230381.6:c.647C>T	ENSP00000230381.5:p.Pro216Leu
NM_000322.4:c.647C>T	NP_000313.2:p.Pro216Leu
XR_427834.2:n.1302C>T
XR_926295.1:n.1484C>T
XR_427834.4:n.1352C>T
XR_926295.3:n.1534C>T
NM_000322.5:c.647C>T MANE Select	NP_000313.2:p.Pro216Leu