Canonical Allele Identifier: CA1088319805

Gene: PRPH2

Linked Data

• dbSNP Id: rs1761901588
• gnomAD v3: 6-42721598-G-GTTCC
• gnomAD v4: 6-42721598-G-GTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721599_42721602dup , CM000668.2:g.42721599_42721602dup	GRCh38
NC_000006.11:g.42689337_42689340dup , CM000668.1:g.42689337_42689340dup	GRCh37
NC_000006.10:g.42797315_42797318dup	NCBI36
NG_009176.1:g.6019_6022dup
NG_009176.2:g.6019_6022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+152_581+155dup MANE Select	ENSP00000230381.5:n.581+152_581+155dup
ENST00000230381.6:c.581+152_581+155dup	ENSP00000230381.5:n.581+152_581+155dup
NM_000322.4:c.581+152_581+155dup	NP_000313.2:n.581+152_581+155dup
XR_427834.2:n.1236+152_1236+155dup
XR_926295.1:n.1236+152_1236+155dup
XR_427834.4:n.1286+152_1286+155dup
XR_926295.3:n.1286+152_1286+155dup
NM_000322.5:c.581+152_581+155dup MANE Select	NP_000313.2:n.581+152_581+155dup