Canonical Allele Identifier: CA2596026304

Gene: PRPH2

Linked Data

• dbSNP Id: rs2152010774
• gnomAD v3: 6-42721560-T-TA
• gnomAD v4: 6-42721560-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721561dup , CM000668.2:g.42721561dup	GRCh38
NC_000006.11:g.42689299dup , CM000668.1:g.42689299dup	GRCh37
NC_000006.10:g.42797277dup	NCBI36
NG_009176.1:g.6060dup
NG_009176.2:g.6060dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+193dup MANE Select	ENSP00000230381.5:n.581+193dup
ENST00000230381.6:c.581+193dup	ENSP00000230381.5:n.581+193dup
NM_000322.4:c.581+193dup	NP_000313.2:n.581+193dup
XR_427834.2:n.1236+193dup
XR_926295.1:n.1236+193dup
XR_427834.4:n.1286+193dup
XR_926295.3:n.1286+193dup
NM_000322.5:c.581+193dup MANE Select	NP_000313.2:n.581+193dup