Canonical Allele Identifier: CA3808680
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs375969072
ExAC: 6:42690067 C / T
gnomAD v2: 6-42690067-C-T
gnomAD v3: 6-42722329-C-T
gnomAD v4: 6-42722329-C-T
COSMIC: COSM3928469
MyVariant Identifiers: chr6:g.42690067C>T (hg19) chr6:g.42722329C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722329C>T , CM000668.2:g.42722329C>T GRCh38
NC_000006.11:g.42690067C>T , CM000668.1:g.42690067C>T GRCh37
NC_000006.10:g.42798045C>T NCBI36
NG_009176.1:g.5292G>A
NG_009176.2:g.5292G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.6G>A MANE Select ENSP00000230381.5:p.Ala2=
ENST00000230381.6:c.6G>A ENSP00000230381.5:p.Ala2=
NM_000322.4:c.6G>A NP_000313.2:p.Ala2=
XR_427834.2:n.661G>A
XR_926295.1:n.661G>A
XR_427834.4:n.711G>A
XR_926295.3:n.711G>A
NM_000322.5:c.6G>A MANE Select NP_000313.2:p.Ala2=
Search 100 bp 5'
Search 100 bp 3'