Canonical Allele Identifier: CA364134982
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175296
ClinVar RCV Id: RCV001530372 RCV003888301
dbSNP Id: rs1064793931
MyVariant Identifiers: chr6:g.42672183A>C (hg19) chr6:g.42704445A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704445A>C , CM000668.2:g.42704445A>C GRCh38
NC_000006.11:g.42672183A>C , CM000668.1:g.42672183A>C GRCh37
NC_000006.10:g.42780161A>C NCBI36
NG_009176.1:g.23176T>G
NG_009176.2:g.23176T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.748T>G MANE Select ENSP00000230381.5:p.Cys250Gly
ENST00000230381.6:c.748T>G ENSP00000230381.5:p.Cys250Gly
NM_000322.4:c.748T>G NP_000313.2:p.Cys250Gly
XR_427834.2:n.1403T>G
XR_427834.4:n.1453T>G
XR_926295.3:n.1635T>G
NM_000322.5:c.748T>G MANE Select NP_000313.2:p.Cys250Gly
Search 100 bp 5'
Search 100 bp 3'