Canonical Allele Identifier: CA2581579699

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722394G>C , CM000668.2:g.42722394G>C	GRCh38
NC_000006.11:g.42690132G>C , CM000668.1:g.42690132G>C	GRCh37
NC_000006.10:g.42798110G>C	NCBI36
NG_009176.1:g.5227C>G
NG_009176.2:g.5227C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-60C>G MANE Select	ENSP00000230381.5:n.-60C>G
ENST00000230381.6:c.-60C>G	ENSP00000230381.5:n.-60C>G
NM_000322.4:c.-60C>G	NP_000313.2:n.-60C>G
XR_427834.2:n.596C>G
XR_926295.1:n.596C>G
XR_427834.4:n.646C>G
XR_926295.3:n.646C>G
NM_000322.5:c.-60C>G MANE Select	NP_000313.2:n.-60C>G