Canonical Allele Identifier: CA1624187212
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722348A= , CM000668.2:g.42722348A= GRCh38
NC_000006.11:g.42690086A= , CM000668.1:g.42690086A= GRCh37
NC_000006.10:g.42798064A= NCBI36
NG_009176.1:g.5273T=
NG_009176.2:g.5273T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-14T= MANE Select ENSP00000230381.5:n.-14T=
ENST00000230381.6:c.-14T= ENSP00000230381.5:n.-14T=
NM_000322.4:c.-14T= NP_000313.2:n.-14T=
XR_427834.2:n.642T=
XR_926295.1:n.642T=
XR_427834.4:n.692T=
XR_926295.3:n.692T=
NM_000322.5:c.-14T= MANE Select NP_000313.2:n.-14T=