Canonical Allele Identifier: CA364137314

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689530G>T (hg19) ; chr6:g.42721792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721792G>T , CM000668.2:g.42721792G>T	GRCh38
NC_000006.11:g.42689530G>T , CM000668.1:g.42689530G>T	GRCh37
NC_000006.10:g.42797508G>T	NCBI36
NG_009176.1:g.5829C>A
NG_009176.2:g.5829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.543C>A MANE Select	ENSP00000230381.5:p.Ser181Arg
ENST00000230381.6:c.543C>A	ENSP00000230381.5:p.Ser181Arg
NM_000322.4:c.543C>A	NP_000313.2:p.Ser181Arg
XR_427834.2:n.1198C>A
XR_926295.1:n.1198C>A
XR_427834.4:n.1248C>A
XR_926295.3:n.1248C>A
NM_000322.5:c.543C>A MANE Select	NP_000313.2:p.Ser181Arg