Canonical Allele Identifier: CA1624186848
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721571G= , CM000668.2:g.42721571G= GRCh38
NC_000006.11:g.42689309G= , CM000668.1:g.42689309G= GRCh37
NC_000006.10:g.42797287G= NCBI36
NG_009176.1:g.6050C=
NG_009176.2:g.6050C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+183C= MANE Select ENSP00000230381.5:n.581+183C=
ENST00000230381.6:c.581+183C= ENSP00000230381.5:n.581+183C=
NM_000322.4:c.581+183C= NP_000313.2:n.581+183C=
XR_427834.2:n.1236+183C=
XR_926295.1:n.1236+183C=
XR_427834.4:n.1286+183C=
XR_926295.3:n.1286+183C=
NM_000322.5:c.581+183C= MANE Select NP_000313.2:n.581+183C=
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