Canonical Allele Identifier: CA2523609112

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722341C>G , CM000668.2:g.42722341C>G	GRCh38
NC_000006.11:g.42690079C>G , CM000668.1:g.42690079C>G	GRCh37
NC_000006.10:g.42798057C>G	NCBI36
NG_009176.1:g.5280G>C
NG_009176.2:g.5280G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-7G>C MANE Select	ENSP00000230381.5:n.-7G>C
ENST00000230381.6:c.-7G>C	ENSP00000230381.5:n.-7G>C
NM_000322.4:c.-7G>C	NP_000313.2:n.-7G>C
XR_427834.2:n.649G>C
XR_926295.1:n.649G>C
XR_427834.4:n.699G>C
XR_926295.3:n.699G>C
NM_000322.5:c.-7G>C MANE Select	NP_000313.2:n.-7G>C