Canonical Allele Identifier: CA364138965
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1264201049
gnomAD v2: 6-42690060-T-C
gnomAD v4: 6-42722322-T-C
MyVariant Identifiers: chr6:g.42690060T>C (hg19) chr6:g.42722322T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722322T>C , CM000668.2:g.42722322T>C GRCh38
NC_000006.11:g.42690060T>C , CM000668.1:g.42690060T>C GRCh37
NC_000006.10:g.42798038T>C NCBI36
NG_009176.1:g.5299A>G
NG_009176.2:g.5299A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.13A>G MANE Select ENSP00000230381.5:p.Lys5Glu
ENST00000230381.6:c.13A>G ENSP00000230381.5:p.Lys5Glu
NM_000322.4:c.13A>G NP_000313.2:p.Lys5Glu
XR_427834.2:n.668A>G
XR_926295.1:n.668A>G
XR_427834.4:n.718A>G
XR_926295.3:n.718A>G
NM_000322.5:c.13A>G MANE Select NP_000313.2:p.Lys5Glu
Search 100 bp 5'
Search 100 bp 3'