Canonical Allele Identifier: CA450244489

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42690034C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722296C>A , CM000668.2:g.42722296C>A	GRCh38
NC_000006.11:g.42690034C>A , CM000668.1:g.42690034C>A	GRCh37
NC_000006.10:g.42798012C>A	NCBI36
NG_009176.1:g.5325G>T
NG_009176.2:g.5325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.39G>T MANE Select	ENSP00000230381.5:p.Arg13=
ENST00000230381.6:c.39G>T	ENSP00000230381.5:p.Arg13=
NM_000322.4:c.39G>T	NP_000313.2:p.Arg13=
XR_427834.2:n.694G>T
XR_926295.1:n.694G>T
XR_427834.4:n.744G>T
XR_926295.3:n.744G>T
NM_000322.5:c.39G>T MANE Select	NP_000313.2:p.Arg13=