Canonical Allele Identifier: CA2578640184

Gene: PRPH2

Linked Data

• dbSNP Id: rs2152011212
• gnomAD v4: 6-42722422-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722422G>A , CM000668.2:g.42722422G>A	GRCh38
NC_000006.11:g.42690160G>A , CM000668.1:g.42690160G>A	GRCh37
NC_000006.10:g.42798138G>A	NCBI36
NG_009176.1:g.5199C>T
NG_009176.2:g.5199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-88C>T MANE Select	ENSP00000230381.5:n.-88C>T
ENST00000230381.6:c.-88C>T	ENSP00000230381.5:n.-88C>T
NM_000322.4:c.-88C>T	NP_000313.2:n.-88C>T
XR_427834.2:n.568C>T
XR_926295.1:n.568C>T
XR_427834.4:n.618C>T
XR_926295.3:n.618C>T
NM_000322.5:c.-88C>T MANE Select	NP_000313.2:n.-88C>T