Canonical Allele Identifier: CA2678772576

Gene: PRPH2

Linked Data

• gnomAD v4: 6-42722404-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722404G>A , CM000668.2:g.42722404G>A	GRCh38
NC_000006.11:g.42690142G>A , CM000668.1:g.42690142G>A	GRCh37
NC_000006.10:g.42798120G>A	NCBI36
NG_009176.1:g.5217C>T
NG_009176.2:g.5217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-70C>T MANE Select	ENSP00000230381.5:n.-70C>T
ENST00000230381.6:c.-70C>T	ENSP00000230381.5:n.-70C>T
NM_000322.4:c.-70C>T	NP_000313.2:n.-70C>T
XR_427834.2:n.586C>T
XR_926295.1:n.586C>T
XR_427834.4:n.636C>T
XR_926295.3:n.636C>T
NM_000322.5:c.-70C>T MANE Select	NP_000313.2:n.-70C>T