Canonical Allele Identifier: CA450244492
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42690037C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722299C>T , CM000668.2:g.42722299C>T GRCh38
NC_000006.11:g.42690037C>T , CM000668.1:g.42690037C>T GRCh37
NC_000006.10:g.42798015C>T NCBI36
NG_009176.1:g.5322G>A
NG_009176.2:g.5322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.36G>A MANE Select ENSP00000230381.5:p.Lys12=
ENST00000230381.6:c.36G>A ENSP00000230381.5:p.Lys12=
NM_000322.4:c.36G>A NP_000313.2:p.Lys12=
XR_427834.2:n.691G>A
XR_926295.1:n.691G>A
XR_427834.4:n.741G>A
XR_926295.3:n.741G>A
NM_000322.5:c.36G>A MANE Select NP_000313.2:p.Lys12=
Search 100 bp 5'
Search 100 bp 3'