Canonical Allele Identifier: CA1624187232
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722382C= , CM000668.2:g.42722382C= GRCh38
NC_000006.11:g.42690120C= , CM000668.1:g.42690120C= GRCh37
NC_000006.10:g.42798098C= NCBI36
NG_009176.1:g.5239G=
NG_009176.2:g.5239G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-48G= MANE Select ENSP00000230381.5:n.-48G=
ENST00000230381.6:c.-48G= ENSP00000230381.5:n.-48G=
NM_000322.4:c.-48G= NP_000313.2:n.-48G=
XR_427834.2:n.608G=
XR_926295.1:n.608G=
XR_427834.4:n.658G=
XR_926295.3:n.658G=
NM_000322.5:c.-48G= MANE Select NP_000313.2:n.-48G=
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