Canonical Allele Identifier: CA3808606

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 707592
• ClinVar RCV Id: RCV001250329 ; RCV001530346 ; RCV000878664
• dbSNP Id: rs76989855
• ExAC: 6:42689590 G / C
• gnomAD v2: 6-42689590-G-C
• gnomAD v3: 6-42721852-G-C
• gnomAD v4: 6-42721852-G-C
• MyVariant Identifiers: chr6:g.42689590G>C (hg19) ; chr6:g.42721852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721852G>C , CM000668.2:g.42721852G>C	GRCh38
NC_000006.11:g.42689590G>C , CM000668.1:g.42689590G>C	GRCh37
NC_000006.10:g.42797568G>C	NCBI36
NG_009176.1:g.5769C>G
NG_009176.2:g.5769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.483C>G MANE Select	ENSP00000230381.5:p.Ile161Met
ENST00000230381.6:c.483C>G	ENSP00000230381.5:p.Ile161Met
NM_000322.4:c.483C>G	NP_000313.2:p.Ile161Met
XR_427834.2:n.1138C>G
XR_926295.1:n.1138C>G
XR_427834.4:n.1188C>G
XR_926295.3:n.1188C>G
NM_000322.5:c.483C>G MANE Select	NP_000313.2:p.Ile161Met