Canonical Allele Identifier: CA2678772544

Gene: PRPH2

Linked Data

• gnomAD v4: 6-42722339-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722339G>A , CM000668.2:g.42722339G>A	GRCh38
NC_000006.11:g.42690077G>A , CM000668.1:g.42690077G>A	GRCh37
NC_000006.10:g.42798055G>A	NCBI36
NG_009176.1:g.5282C>T
NG_009176.2:g.5282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-5C>T MANE Select	ENSP00000230381.5:n.-5C>T
ENST00000230381.6:c.-5C>T	ENSP00000230381.5:n.-5C>T
NM_000322.4:c.-5C>T	NP_000313.2:n.-5C>T
XR_427834.2:n.651C>T
XR_926295.1:n.651C>T
XR_427834.4:n.701C>T
XR_926295.3:n.701C>T
NM_000322.5:c.-5C>T MANE Select	NP_000313.2:n.-5C>T