Canonical Allele Identifier: CA1624170740
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704628C= , CM000668.2:g.42704628C= GRCh38
NC_000006.11:g.42672366C= , CM000668.1:g.42672366C= GRCh37
NC_000006.10:g.42780344C= NCBI36
NG_009176.1:g.22993G=
NG_009176.2:g.22993G=

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.582-17G= MANE Select ENSP00000230381.5:n.582-17G=
ENST00000230381.6:c.582-17G= ENSP00000230381.5:n.582-17G=
NM_000322.4:c.582-17G= NP_000313.2:n.582-17G=
XR_427834.2:n.1237-17G=
XR_926295.1:n.1419-17G=
XR_427834.4:n.1287-17G=
XR_926295.3:n.1469-17G=
NM_000322.5:c.582-17G= MANE Select NP_000313.2:n.582-17G=
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