Canonical Allele Identifier: CA3808672
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs777717115
ExAC: 6:42690024 C / G
gnomAD v2: 6-42690024-C-G
gnomAD v4: 6-42722286-C-G
MyVariant Identifiers: chr6:g.42690024C>G (hg19) chr6:g.42722286C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722286C>G , CM000668.2:g.42722286C>G GRCh38
NC_000006.11:g.42690024C>G , CM000668.1:g.42690024C>G GRCh37
NC_000006.10:g.42798002C>G NCBI36
NG_009176.1:g.5335G>C
NG_009176.2:g.5335G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.49G>C MANE Select ENSP00000230381.5:p.Ala17Pro
ENST00000230381.6:c.49G>C ENSP00000230381.5:p.Ala17Pro
NM_000322.4:c.49G>C NP_000313.2:p.Ala17Pro
XR_427834.2:n.704G>C
XR_926295.1:n.704G>C
XR_427834.4:n.754G>C
XR_926295.3:n.754G>C
NM_000322.5:c.49G>C MANE Select NP_000313.2:p.Ala17Pro
Search 100 bp 5'
Search 100 bp 3'