Canonical Allele Identifier: CA138186804
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs954629616
gnomAD v3: 6-42721515-C-A
gnomAD v4: 6-42721515-C-A
MyVariant Identifiers: chr6:g.42689253C>A (hg19) chr6:g.42721515C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721515C>A , CM000668.2:g.42721515C>A GRCh38
NC_000006.11:g.42689253C>A , CM000668.1:g.42689253C>A GRCh37
NC_000006.10:g.42797231C>A NCBI36
NG_009176.1:g.6106G>T
NG_009176.2:g.6106G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+239G>T MANE Select ENSP00000230381.5:n.581+239G>T
ENST00000230381.6:c.581+239G>T ENSP00000230381.5:n.581+239G>T
NM_000322.4:c.581+239G>T NP_000313.2:n.581+239G>T
XR_427834.2:n.1236+239G>T
XR_926295.1:n.1236+239G>T
XR_427834.4:n.1286+239G>T
XR_926295.3:n.1286+239G>T
NM_000322.5:c.581+239G>T MANE Select NP_000313.2:n.581+239G>T
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