Canonical Allele Identifier: CA241332

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 195062
• ClinVar RCV Id: RCV000175581 ; RCV001250337 ; RCV001463523 ; RCV003389460
• dbSNP Id: rs542296728
• ExAC: 6:42672206 T / C
• gnomAD v2: 6-42672206-T-C
• gnomAD v3: 6-42704468-T-C
• gnomAD v4: 6-42704468-T-C
• MyVariant Identifiers: chr6:g.42672206T>C (hg19) ; chr6:g.42704468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704468T>C , CM000668.2:g.42704468T>C	GRCh38
NC_000006.11:g.42672206T>C , CM000668.1:g.42672206T>C	GRCh37
NC_000006.10:g.42780184T>C	NCBI36
NG_009176.1:g.23153A>G
NG_009176.2:g.23153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.725A>G MANE Select	ENSP00000230381.5:p.Glu242Gly
ENST00000230381.6:c.725A>G	ENSP00000230381.5:p.Glu242Gly
NM_000322.4:c.725A>G	NP_000313.2:p.Glu242Gly
XR_427834.2:n.1380A>G
XR_427834.4:n.1430A>G
XR_926295.3:n.1612A>G
NM_000322.5:c.725A>G MANE Select	NP_000313.2:p.Glu242Gly