Canonical Allele Identifier: CA364138843
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1177186834
gnomAD v4: 6-42722268-T-G
MyVariant Identifiers: chr6:g.42690006T>G (hg19) chr6:g.42722268T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722268T>G , CM000668.2:g.42722268T>G GRCh38
NC_000006.11:g.42690006T>G , CM000668.1:g.42690006T>G GRCh37
NC_000006.10:g.42797984T>G NCBI36
NG_009176.1:g.5353A>C
NG_009176.2:g.5353A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.67A>C MANE Select ENSP00000230381.5:p.Met23Leu
ENST00000230381.6:c.67A>C ENSP00000230381.5:p.Met23Leu
NM_000322.4:c.67A>C NP_000313.2:p.Met23Leu
XR_427834.2:n.722A>C
XR_926295.1:n.722A>C
XR_427834.4:n.772A>C
XR_926295.3:n.772A>C
NM_000322.5:c.67A>C MANE Select NP_000313.2:p.Met23Leu
Search 100 bp 5'
Search 100 bp 3'