Canonical Allele Identifier: CA364138745
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175248
ClinVar RCV Id: RCV001530290
dbSNP Id: rs1761918414
MyVariant Identifiers: chr6:g.42689961C>A (hg19) chr6:g.42722223C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722223C>A , CM000668.2:g.42722223C>A GRCh38
NC_000006.11:g.42689961C>A , CM000668.1:g.42689961C>A GRCh37
NC_000006.10:g.42797939C>A NCBI36
NG_009176.1:g.5398G>T
NG_009176.2:g.5398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.112G>T MANE Select ENSP00000230381.5:p.Gly38Ter
ENST00000230381.6:c.112G>T ENSP00000230381.5:p.Gly38Ter
NM_000322.4:c.112G>T NP_000313.2:p.Gly38Ter
XR_427834.2:n.767G>T
XR_926295.1:n.767G>T
XR_427834.4:n.817G>T
XR_926295.3:n.817G>T
NM_000322.5:c.112G>T MANE Select NP_000313.2:p.Gly38Ter
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