Canonical Allele Identifier: CA450244505

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42690064T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722326T>A , CM000668.2:g.42722326T>A	GRCh38
NC_000006.11:g.42690064T>A , CM000668.1:g.42690064T>A	GRCh37
NC_000006.10:g.42798042T>A	NCBI36
NG_009176.1:g.5295A>T
NG_009176.2:g.5295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.9A>T MANE Select	ENSP00000230381.5:p.Leu3=
ENST00000230381.6:c.9A>T	ENSP00000230381.5:p.Leu3=
NM_000322.4:c.9A>T	NP_000313.2:p.Leu3=
XR_427834.2:n.664A>T
XR_926295.1:n.664A>T
XR_427834.4:n.714A>T
XR_926295.3:n.714A>T
NM_000322.5:c.9A>T MANE Select	NP_000313.2:p.Leu3=