Canonical Allele Identifier: CA2596026305

Gene: PRPH2

Linked Data

• dbSNP Id: rs2152010784
• gnomAD v3: 6-42721585-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721585G>A , CM000668.2:g.42721585G>A	GRCh38
NC_000006.11:g.42689323G>A , CM000668.1:g.42689323G>A	GRCh37
NC_000006.10:g.42797301G>A	NCBI36
NG_009176.1:g.6036C>T
NG_009176.2:g.6036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+169C>T MANE Select	ENSP00000230381.5:n.581+169C>T
ENST00000230381.6:c.581+169C>T	ENSP00000230381.5:n.581+169C>T
NM_000322.4:c.581+169C>T	NP_000313.2:n.581+169C>T
XR_427834.2:n.1236+169C>T
XR_926295.1:n.1236+169C>T
XR_427834.4:n.1286+169C>T
XR_926295.3:n.1286+169C>T
NM_000322.5:c.581+169C>T MANE Select	NP_000313.2:n.581+169C>T