Canonical Allele Identifier: CA450362722

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689989C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722251C>A , CM000668.2:g.42722251C>A	GRCh38
NC_000006.11:g.42689989C>A , CM000668.1:g.42689989C>A	GRCh37
NC_000006.10:g.42797967C>A	NCBI36
NG_009176.1:g.5370G>T
NG_009176.2:g.5370G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.84G>T MANE Select	ENSP00000230381.5:p.Val28=
ENST00000230381.6:c.84G>T	ENSP00000230381.5:p.Val28=
NM_000322.4:c.84G>T	NP_000313.2:p.Val28=
XR_427834.2:n.739G>T
XR_926295.1:n.739G>T
XR_427834.4:n.789G>T
XR_926295.3:n.789G>T
NM_000322.5:c.84G>T MANE Select	NP_000313.2:p.Val28=