Canonical Allele Identifier: CA364137654

Gene: PRPH2

Linked Data

• dbSNP Id: rs1562434015
• gnomAD v2: 6-42689678-T-C
• gnomAD v4: 6-42721940-T-C
• MyVariant Identifiers: chr6:g.42689678T>C (hg19) ; chr6:g.42689678_42689679delinsCG (hg19) ; chr6:g.42721940T>C (hg38) ; chr6:g.42721940_42721941delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721940T>C , CM000668.2:g.42721940T>C	GRCh38
NC_000006.11:g.42689678T>C , CM000668.1:g.42689678T>C	GRCh37
NC_000006.10:g.42797656T>C	NCBI36
NG_009176.1:g.5681A>G
NG_009176.2:g.5681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.395A>G MANE Select	ENSP00000230381.5:p.Gln132Arg
ENST00000230381.6:c.395A>G	ENSP00000230381.5:p.Gln132Arg
NM_000322.4:c.395A>G	NP_000313.2:p.Gln132Arg
XR_427834.2:n.1050A>G
XR_926295.1:n.1050A>G
XR_427834.4:n.1100A>G
XR_926295.3:n.1100A>G
NM_000322.5:c.395A>G MANE Select	NP_000313.2:p.Gln132Arg