Canonical Allele Identifier: CA824850328
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1185227821
MyVariant Identifiers: chr6:g.42689300_42689301insG (hg19) chr6:g.42721562_42721563insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721565dup , CM000668.2:g.42721565dup GRCh38
NC_000006.11:g.42689303dup , CM000668.1:g.42689303dup GRCh37
NC_000006.10:g.42797281dup NCBI36
NG_009176.1:g.6058dup
NG_009176.2:g.6058dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.581+191dup MANE Select ENSP00000230381.5:n.581+191dup
ENST00000230381.6:c.581+191dup ENSP00000230381.5:n.581+191dup
NM_000322.4:c.581+191dup NP_000313.2:n.581+191dup
XR_427834.2:n.1236+191dup
XR_926295.1:n.1236+191dup
XR_427834.4:n.1286+191dup
XR_926295.3:n.1286+191dup
NM_000322.5:c.581+191dup MANE Select NP_000313.2:n.581+191dup
Search 100 bp 5'
Search 100 bp 3'