Canonical Allele Identifier: CA138186893
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs567761927
gnomAD v3: 6-42721645-G-A
gnomAD v4: 6-42721645-G-A
COSMIC: COSN5860636
MyVariant Identifiers: chr6:g.42689383G>A (hg19) chr6:g.42721645G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721645G>A , CM000668.2:g.42721645G>A GRCh38
NC_000006.11:g.42689383G>A , CM000668.1:g.42689383G>A GRCh37
NC_000006.10:g.42797361G>A NCBI36
NG_009176.1:g.5976C>T
NG_009176.2:g.5976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+109C>T MANE Select ENSP00000230381.5:n.581+109C>T
ENST00000230381.6:c.581+109C>T ENSP00000230381.5:n.581+109C>T
NM_000322.4:c.581+109C>T NP_000313.2:n.581+109C>T
XR_427834.2:n.1236+109C>T
XR_926295.1:n.1236+109C>T
XR_427834.4:n.1286+109C>T
XR_926295.3:n.1286+109C>T
NM_000322.5:c.581+109C>T MANE Select NP_000313.2:n.581+109C>T
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