Canonical Allele Identifier: CA566773876
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1176156129
gnomAD v2: 6-42690081-A-C
gnomAD v4: 6-42722343-A-C
MyVariant Identifiers: chr6:g.42690081A>C (hg19) chr6:g.42722343A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722343A>C , CM000668.2:g.42722343A>C GRCh38
NC_000006.11:g.42690081A>C , CM000668.1:g.42690081A>C GRCh37
NC_000006.10:g.42798059A>C NCBI36
NG_009176.1:g.5278T>G
NG_009176.2:g.5278T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-9T>G MANE Select ENSP00000230381.5:n.-9T>G
ENST00000230381.6:c.-9T>G ENSP00000230381.5:n.-9T>G
NM_000322.4:c.-9T>G NP_000313.2:n.-9T>G
XR_427834.2:n.647T>G
XR_926295.1:n.647T>G
XR_427834.4:n.697T>G
XR_926295.3:n.697T>G
NM_000322.5:c.-9T>G MANE Select NP_000313.2:n.-9T>G
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