Canonical Allele Identifier: CA138186827
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs979277789
gnomAD v2: 6-42689338-T-G
gnomAD v3: 6-42721600-T-G
gnomAD v4: 6-42721600-T-G
MyVariant Identifiers: chr6:g.42689338T>G (hg19) chr6:g.42721600T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721600T>G , CM000668.2:g.42721600T>G GRCh38
NC_000006.11:g.42689338T>G , CM000668.1:g.42689338T>G GRCh37
NC_000006.10:g.42797316T>G NCBI36
NG_009176.1:g.6021A>C
NG_009176.2:g.6021A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+154A>C MANE Select ENSP00000230381.5:n.581+154A>C
ENST00000230381.6:c.581+154A>C ENSP00000230381.5:n.581+154A>C
NM_000322.4:c.581+154A>C NP_000313.2:n.581+154A>C
XR_427834.2:n.1236+154A>C
XR_926295.1:n.1236+154A>C
XR_427834.4:n.1286+154A>C
XR_926295.3:n.1286+154A>C
NM_000322.5:c.581+154A>C MANE Select NP_000313.2:n.581+154A>C
Search 100 bp 5'
Search 100 bp 3'