Canonical Allele Identifier: CA364137455

Gene: PRPH2

Linked Data

• gnomAD v4: 6-42721850-T-A
• MyVariant Identifiers: chr6:g.42689588T>A (hg19) ; chr6:g.42721850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721850T>A , CM000668.2:g.42721850T>A	GRCh38
NC_000006.11:g.42689588T>A , CM000668.1:g.42689588T>A	GRCh37
NC_000006.10:g.42797566T>A	NCBI36
NG_009176.1:g.5771A>T
NG_009176.2:g.5771A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.485A>T MANE Select	ENSP00000230381.5:p.Glu162Val
ENST00000230381.6:c.485A>T	ENSP00000230381.5:p.Glu162Val
NM_000322.4:c.485A>T	NP_000313.2:p.Glu162Val
XR_427834.2:n.1140A>T
XR_926295.1:n.1140A>T
XR_427834.4:n.1190A>T
XR_926295.3:n.1190A>T
NM_000322.5:c.485A>T MANE Select	NP_000313.2:p.Glu162Val