Canonical Allele Identifier: CA138187459
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs201018137
gnomAD v2: 6-42689966-C-T
gnomAD v3: 6-42722228-C-T
gnomAD v4: 6-42722228-C-T
MyVariant Identifiers: chr6:g.42689966C>T (hg19) chr6:g.42722228C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722228C>T , CM000668.2:g.42722228C>T GRCh38
NC_000006.11:g.42689966C>T , CM000668.1:g.42689966C>T GRCh37
NC_000006.10:g.42797944C>T NCBI36
NG_009176.1:g.5393G>A
NG_009176.2:g.5393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.107G>A MANE Select ENSP00000230381.5:p.Ser36Asn
ENST00000230381.6:c.107G>A ENSP00000230381.5:p.Ser36Asn
NM_000322.4:c.107G>A NP_000313.2:p.Ser36Asn
XR_427834.2:n.762G>A
XR_926295.1:n.762G>A
XR_427834.4:n.812G>A
XR_926295.3:n.812G>A
NM_000322.5:c.107G>A MANE Select NP_000313.2:p.Ser36Asn
Search 100 bp 5'
Search 100 bp 3'