Canonical Allele Identifier: CA3808573

Gene: PRPH2

Linked Data

• dbSNP Id: rs756876570
• ExAC: 6:42672352 T / C
• gnomAD v2: 6-42672352-T-C
• gnomAD v4: 6-42704614-T-C
• MyVariant Identifiers: chr6:g.42672352T>C (hg19) ; chr6:g.42704614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704614T>C , CM000668.2:g.42704614T>C	GRCh38
NC_000006.11:g.42672352T>C , CM000668.1:g.42672352T>C	GRCh37
NC_000006.10:g.42780330T>C	NCBI36
NG_009176.1:g.23007A>G
NG_009176.2:g.23007A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230381.7:c.582-3A>G MANE Select	ENSP00000230381.5:n.582-3A>G
ENST00000230381.6:c.582-3A>G	ENSP00000230381.5:n.582-3A>G
NM_000322.4:c.582-3A>G	NP_000313.2:n.582-3A>G
XR_427834.2:n.1237-3A>G
XR_926295.1:n.1419-3A>G
XR_427834.4:n.1287-3A>G
XR_926295.3:n.1469-3A>G
NM_000322.5:c.582-3A>G MANE Select	NP_000313.2:n.582-3A>G