Canonical Allele Identifier: CA364138831
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1210359538
gnomAD v2: 6-42690002-T-C
gnomAD v3: 6-42722264-T-C
gnomAD v4: 6-42722264-T-C
MyVariant Identifiers: chr6:g.42690002T>C (hg19) chr6:g.42722264T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722264T>C , CM000668.2:g.42722264T>C GRCh38
NC_000006.11:g.42690002T>C , CM000668.1:g.42690002T>C GRCh37
NC_000006.10:g.42797980T>C NCBI36
NG_009176.1:g.5357A>G
NG_009176.2:g.5357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.71A>G MANE Select ENSP00000230381.5:p.Asn24Ser
ENST00000230381.6:c.71A>G ENSP00000230381.5:p.Asn24Ser
NM_000322.4:c.71A>G NP_000313.2:p.Asn24Ser
XR_427834.2:n.726A>G
XR_926295.1:n.726A>G
XR_427834.4:n.776A>G
XR_926295.3:n.776A>G
NM_000322.5:c.71A>G MANE Select NP_000313.2:p.Asn24Ser
Search 100 bp 5'
Search 100 bp 3'