Canonical Allele Identifier: CA450362594
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689785G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722047G>T , CM000668.2:g.42722047G>T GRCh38
NC_000006.11:g.42689785G>T , CM000668.1:g.42689785G>T GRCh37
NC_000006.10:g.42797763G>T NCBI36
NG_009176.1:g.5574C>A
NG_009176.2:g.5574C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.288C>A MANE Select ENSP00000230381.5:p.Pro96=
ENST00000230381.6:c.288C>A ENSP00000230381.5:p.Pro96=
NM_000322.4:c.288C>A NP_000313.2:p.Pro96=
XR_427834.2:n.943C>A
XR_926295.1:n.943C>A
XR_427834.4:n.993C>A
XR_926295.3:n.993C>A
NM_000322.5:c.288C>A MANE Select NP_000313.2:p.Pro96=