Canonical Allele Identifier: CA1624187236
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722387C= , CM000668.2:g.42722387C= GRCh38
NC_000006.11:g.42690125C= , CM000668.1:g.42690125C= GRCh37
NC_000006.10:g.42798103C= NCBI36
NG_009176.1:g.5234G=
NG_009176.2:g.5234G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-53G= MANE Select ENSP00000230381.5:n.-53G=
ENST00000230381.6:c.-53G= ENSP00000230381.5:n.-53G=
NM_000322.4:c.-53G= NP_000313.2:n.-53G=
XR_427834.2:n.603G=
XR_926295.1:n.603G=
XR_427834.4:n.653G=
XR_926295.3:n.653G=
NM_000322.5:c.-53G= MANE Select NP_000313.2:n.-53G=
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