Canonical Allele Identifier: CA138187235

Gene: PRPH2

Linked Data

• dbSNP Id: rs530135649
• MyVariant Identifiers: chr6:g.42689803C>A (hg19) ; chr6:g.42722065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722065C>A , CM000668.2:g.42722065C>A	GRCh38
NC_000006.11:g.42689803C>A , CM000668.1:g.42689803C>A	GRCh37
NC_000006.10:g.42797781C>A	NCBI36
NG_009176.1:g.5556G>T
NG_009176.2:g.5556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.270G>T MANE Select	ENSP00000230381.5:p.Lys90Asn
ENST00000230381.6:c.270G>T	ENSP00000230381.5:p.Lys90Asn
NM_000322.4:c.270G>T	NP_000313.2:p.Lys90Asn
XR_427834.2:n.925G>T
XR_926295.1:n.925G>T
XR_427834.4:n.975G>T
XR_926295.3:n.975G>T
NM_000322.5:c.270G>T MANE Select	NP_000313.2:p.Lys90Asn