Canonical Allele Identifier: CA270015

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 143070
• ClinVar RCV Id: RCV000132579 ; RCV000438661 ; RCV001055454 ; RCV001073378 ; RCV001250331
• dbSNP Id: rs527236098
• gnomAD v4: 6-42721836-C-T
• MyVariant Identifiers: chr6:g.42689574C>T (hg19) ; chr6:g.42721836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721836C>T , CM000668.2:g.42721836C>T	GRCh38
NC_000006.11:g.42689574C>T , CM000668.1:g.42689574C>T	GRCh37
NC_000006.10:g.42797552C>T	NCBI36
NG_009176.1:g.5785G>A
NG_009176.2:g.5785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.499G>A MANE Select	ENSP00000230381.5:p.Gly167Ser
ENST00000230381.6:c.499G>A	ENSP00000230381.5:p.Gly167Ser
NM_000322.4:c.499G>A	NP_000313.2:p.Gly167Ser
XR_427834.2:n.1154G>A
XR_926295.1:n.1154G>A
XR_427834.4:n.1204G>A
XR_926295.3:n.1204G>A
NM_000322.5:c.499G>A MANE Select	NP_000313.2:p.Gly167Ser