Canonical Allele Identifier: CA16621838

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 425378
• ClinVar RCV Id: RCV001199524 ; RCV001199528 ; RCV000487688 ; RCV002526003
• dbSNP Id: rs986748364
• gnomAD v2: 6-42672278-G-A
• gnomAD v4: 6-42704540-G-A
• MyVariant Identifiers: chr6:g.42672278G>A (hg19) ; chr6:g.42704540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704540G>A , CM000668.2:g.42704540G>A	GRCh38
NC_000006.11:g.42672278G>A , CM000668.1:g.42672278G>A	GRCh37
NC_000006.10:g.42780256G>A	NCBI36
NG_009176.1:g.23081C>T
NG_009176.2:g.23081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.653C>T MANE Select	ENSP00000230381.5:p.Ser218Leu
ENST00000230381.6:c.653C>T	ENSP00000230381.5:p.Ser218Leu
NM_000322.4:c.653C>T	NP_000313.2:p.Ser218Leu
XR_427834.2:n.1308C>T
XR_926295.1:n.1490C>T
XR_427834.4:n.1358C>T
XR_926295.3:n.1540C>T
NM_000322.5:c.653C>T MANE Select	NP_000313.2:p.Ser218Leu