Canonical Allele Identifier: CA3808561
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1121125
ClinVar RCV Id: RCV001451318
dbSNP Id: rs373015247
ExAC: 6:42672277 C / A
gnomAD v2: 6-42672277-C-A
gnomAD v4: 6-42704539-C-A
MyVariant Identifiers: chr6:g.42672277C>A (hg19) chr6:g.42704539C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704539C>A , CM000668.2:g.42704539C>A GRCh38
NC_000006.11:g.42672277C>A , CM000668.1:g.42672277C>A GRCh37
NC_000006.10:g.42780255C>A NCBI36
NG_009176.1:g.23082G>T
NG_009176.2:g.23082G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.654G>T MANE Select ENSP00000230381.5:p.Ser218=
ENST00000230381.6:c.654G>T ENSP00000230381.5:p.Ser218=
NM_000322.4:c.654G>T NP_000313.2:p.Ser218=
XR_427834.2:n.1309G>T
XR_926295.1:n.1491G>T
XR_427834.4:n.1359G>T
XR_926295.3:n.1541G>T
NM_000322.5:c.654G>T MANE Select NP_000313.2:p.Ser218=
Search 100 bp 5'
Search 100 bp 3'