Canonical Allele Identifier: CA824850329
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1272214782
gnomAD v3: 6-42721595-A-G
gnomAD v4: 6-42721595-A-G
MyVariant Identifiers: chr6:g.42689333A>G (hg19) chr6:g.42721595A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721595A>G , CM000668.2:g.42721595A>G GRCh38
NC_000006.11:g.42689333A>G , CM000668.1:g.42689333A>G GRCh37
NC_000006.10:g.42797311A>G NCBI36
NG_009176.1:g.6026T>C
NG_009176.2:g.6026T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+159T>C MANE Select ENSP00000230381.5:n.581+159T>C
ENST00000230381.6:c.581+159T>C ENSP00000230381.5:n.581+159T>C
NM_000322.4:c.581+159T>C NP_000313.2:n.581+159T>C
XR_427834.2:n.1236+159T>C
XR_926295.1:n.1236+159T>C
XR_427834.4:n.1286+159T>C
XR_926295.3:n.1286+159T>C
NM_000322.5:c.581+159T>C MANE Select NP_000313.2:n.581+159T>C
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