Canonical Allele Identifier: CA364137122
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42721758-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721758T>C , CM000668.2:g.42721758T>C GRCh38
NC_000006.11:g.42689496T>C , CM000668.1:g.42689496T>C GRCh37
NC_000006.10:g.42797474T>C NCBI36
NG_009176.1:g.5863A>G
NG_009176.2:g.5863A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.577A>G MANE Select ENSP00000230381.5:p.Lys193Glu
ENST00000230381.6:c.577A>G ENSP00000230381.5:p.Lys193Glu
NM_000322.4:c.577A>G NP_000313.2:p.Lys193Glu
XR_427834.2:n.1232A>G
XR_926295.1:n.1232A>G
XR_427834.4:n.1282A>G
XR_926295.3:n.1282A>G
NM_000322.5:c.577A>G MANE Select NP_000313.2:p.Lys193Glu