Canonical Allele Identifier: CA364137598
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1358170
ClinVar RCV Id: RCV001894157
dbSNP Id: rs1761910060
gnomAD v3: 6-42721916-T-C
gnomAD v4: 6-42721916-T-C
MyVariant Identifiers: chr6:g.42689654T>C (hg19) chr6:g.42721916T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721916T>C , CM000668.2:g.42721916T>C GRCh38
NC_000006.11:g.42689654T>C , CM000668.1:g.42689654T>C GRCh37
NC_000006.10:g.42797632T>C NCBI36
NG_009176.1:g.5705A>G
NG_009176.2:g.5705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.419A>G MANE Select ENSP00000230381.5:p.Tyr140Cys
ENST00000230381.6:c.419A>G ENSP00000230381.5:p.Tyr140Cys
NM_000322.4:c.419A>G NP_000313.2:p.Tyr140Cys
XR_427834.2:n.1074A>G
XR_926295.1:n.1074A>G
XR_427834.4:n.1124A>G
XR_926295.3:n.1124A>G
NM_000322.5:c.419A>G MANE Select NP_000313.2:p.Tyr140Cys
Search 100 bp 5'
Search 100 bp 3'