Canonical Allele Identifier: CA2770821249

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721518C>G , CM000668.2:g.42721518C>G	GRCh38
NC_000006.11:g.42689256C>G , CM000668.1:g.42689256C>G	GRCh37
NC_000006.10:g.42797234C>G	NCBI36
NG_009176.1:g.6103G>C
NG_009176.2:g.6103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+236G>C MANE Select	ENSP00000230381.5:n.581+236G>C
ENST00000230381.6:c.581+236G>C	ENSP00000230381.5:n.581+236G>C
NM_000322.4:c.581+236G>C	NP_000313.2:n.581+236G>C
XR_427834.2:n.1236+236G>C
XR_926295.1:n.1236+236G>C
XR_427834.4:n.1286+236G>C
XR_926295.3:n.1286+236G>C
NM_000322.5:c.581+236G>C MANE Select	NP_000313.2:n.581+236G>C