Canonical Allele Identifier: CA566773878
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1220731980
gnomAD v2: 6-42690100-C-T
MyVariant Identifiers: chr6:g.42690100C>T (hg19) chr6:g.42722362C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722362C>T , CM000668.2:g.42722362C>T GRCh38
NC_000006.11:g.42690100C>T , CM000668.1:g.42690100C>T GRCh37
NC_000006.10:g.42798078C>T NCBI36
NG_009176.1:g.5259G>A
NG_009176.2:g.5259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-28G>A MANE Select ENSP00000230381.5:n.-28G>A
ENST00000230381.6:c.-28G>A ENSP00000230381.5:n.-28G>A
NM_000322.4:c.-28G>A NP_000313.2:n.-28G>A
XR_427834.2:n.628G>A
XR_926295.1:n.628G>A
XR_427834.4:n.678G>A
XR_926295.3:n.678G>A
NM_000322.5:c.-28G>A MANE Select NP_000313.2:n.-28G>A
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