Canonical Allele Identifier: CA1624187235
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1761922992
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722384A>G , CM000668.2:g.42722384A>G GRCh38
NC_000006.11:g.42690122A>G , CM000668.1:g.42690122A>G GRCh37
NC_000006.10:g.42798100A>G NCBI36
NG_009176.1:g.5237T>C
NG_009176.2:g.5237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-50T>C MANE Select ENSP00000230381.5:n.-50T>C
ENST00000230381.6:c.-50T>C ENSP00000230381.5:n.-50T>C
NM_000322.4:c.-50T>C NP_000313.2:n.-50T>C
XR_427834.2:n.606T>C
XR_926295.1:n.606T>C
XR_427834.4:n.656T>C
XR_926295.3:n.656T>C
NM_000322.5:c.-50T>C MANE Select NP_000313.2:n.-50T>C
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