Canonical Allele Identifier: CA450362549
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1400745189
gnomAD v2: 6-42689722-G-C
gnomAD v4: 6-42721984-G-C
MyVariant Identifiers: chr6:g.42689722G>C (hg19) chr6:g.42721984G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721984G>C , CM000668.2:g.42721984G>C GRCh38
NC_000006.11:g.42689722G>C , CM000668.1:g.42689722G>C GRCh37
NC_000006.10:g.42797700G>C NCBI36
NG_009176.1:g.5637C>G
NG_009176.2:g.5637C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.351C>G MANE Select ENSP00000230381.5:p.Leu117=
ENST00000230381.6:c.351C>G ENSP00000230381.5:p.Leu117=
NM_000322.4:c.351C>G NP_000313.2:p.Leu117=
XR_427834.2:n.1006C>G
XR_926295.1:n.1006C>G
XR_427834.4:n.1056C>G
XR_926295.3:n.1056C>G
NM_000322.5:c.351C>G MANE Select NP_000313.2:p.Leu117=
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