Canonical Allele Identifier: CA226300

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98703
• ClinVar RCV Id: RCV000085015 ; RCV001250336 ; RCV001250335 ; RCV000787668 ; RCV001386136
• dbSNP Id: rs61755814
• gnomAD v4: 6-42704478-G-A
• MyVariant Identifiers: chr6:g.42672216G>A (hg19) ; chr6:g.42704478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704478G>A , CM000668.2:g.42704478G>A	GRCh38
NC_000006.11:g.42672216G>A , CM000668.1:g.42672216G>A	GRCh37
NC_000006.10:g.42780194G>A	NCBI36
NG_009176.1:g.23143C>T
NG_009176.2:g.23143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.715C>T MANE Select	ENSP00000230381.5:p.Gln239Ter
ENST00000230381.6:c.715C>T	ENSP00000230381.5:p.Gln239Ter
NM_000322.4:c.715C>T	NP_000313.2:p.Gln239Ter
XR_427834.2:n.1370C>T
XR_427834.4:n.1420C>T
XR_926295.3:n.1602C>T
NM_000322.5:c.715C>T MANE Select	NP_000313.2:p.Gln239Ter