Canonical Allele Identifier: CA450362703
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689962T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722224T>G , CM000668.2:g.42722224T>G GRCh38
NC_000006.11:g.42689962T>G , CM000668.1:g.42689962T>G GRCh37
NC_000006.10:g.42797940T>G NCBI36
NG_009176.1:g.5397A>C
NG_009176.2:g.5397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.111A>C MANE Select ENSP00000230381.5:p.Leu37=
ENST00000230381.6:c.111A>C ENSP00000230381.5:p.Leu37=
NM_000322.4:c.111A>C NP_000313.2:p.Leu37=
XR_427834.2:n.766A>C
XR_926295.1:n.766A>C
XR_427834.4:n.816A>C
XR_926295.3:n.816A>C
NM_000322.5:c.111A>C MANE Select NP_000313.2:p.Leu37=
Search 100 bp 5'
Search 100 bp 3'