Canonical Allele Identifier: CA3808613
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs753035269
ExAC: 6:42689636 G / T
gnomAD v2: 6-42689636-G-T
gnomAD v3: 6-42721898-G-T
gnomAD v4: 6-42721898-G-T
MyVariant Identifiers: chr6:g.42689636G>T (hg19) chr6:g.42721898G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721898G>T , CM000668.2:g.42721898G>T GRCh38
NC_000006.11:g.42689636G>T , CM000668.1:g.42689636G>T GRCh37
NC_000006.10:g.42797614G>T NCBI36
NG_009176.1:g.5723C>A
NG_009176.2:g.5723C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.437C>A MANE Select ENSP00000230381.5:p.Thr146Asn
ENST00000230381.6:c.437C>A ENSP00000230381.5:p.Thr146Asn
NM_000322.4:c.437C>A NP_000313.2:p.Thr146Asn
XR_427834.2:n.1092C>A
XR_926295.1:n.1092C>A
XR_427834.4:n.1142C>A
XR_926295.3:n.1142C>A
NM_000322.5:c.437C>A MANE Select NP_000313.2:p.Thr146Asn
Search 100 bp 5'
Search 100 bp 3'