Canonical Allele Identifier: CA450244488
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722293-G-T
MyVariant Identifiers: chr6:g.42690031G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722293G>T , CM000668.2:g.42722293G>T GRCh38
NC_000006.11:g.42690031G>T , CM000668.1:g.42690031G>T GRCh37
NC_000006.10:g.42798009G>T NCBI36
NG_009176.1:g.5328C>A
NG_009176.2:g.5328C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.42C>A MANE Select ENSP00000230381.5:p.Val14=
ENST00000230381.6:c.42C>A ENSP00000230381.5:p.Val14=
NM_000322.4:c.42C>A NP_000313.2:p.Val14=
XR_427834.2:n.697C>A
XR_926295.1:n.697C>A
XR_427834.4:n.747C>A
XR_926295.3:n.747C>A
NM_000322.5:c.42C>A MANE Select NP_000313.2:p.Val14=
Search 100 bp 5'
Search 100 bp 3'