Canonical Allele Identifier: CA3808609

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 846922
• ClinVar RCV Id: RCV001050346 ; RCV001161384 ; RCV001161386 ; RCV001162922 ; RCV001162924 ; RCV001161385 ; RCV001162923 ; RCV001530339 ; RCV003890189
• dbSNP Id: rs146703538
• ExAC: 6:42689619 T / C
• gnomAD v2: 6-42689619-T-C
• gnomAD v3: 6-42721881-T-C
• gnomAD v4: 6-42721881-T-C
• MyVariant Identifiers: chr6:g.42689619T>C (hg19) ; chr6:g.42721881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721881T>C , CM000668.2:g.42721881T>C	GRCh38
NC_000006.11:g.42689619T>C , CM000668.1:g.42689619T>C	GRCh37
NC_000006.10:g.42797597T>C	NCBI36
NG_009176.1:g.5740A>G
NG_009176.2:g.5740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.454A>G MANE Select	ENSP00000230381.5:p.Met152Val
ENST00000230381.6:c.454A>G	ENSP00000230381.5:p.Met152Val
NM_000322.4:c.454A>G	NP_000313.2:p.Met152Val
XR_427834.2:n.1109A>G
XR_926295.1:n.1109A>G
XR_427834.4:n.1159A>G
XR_926295.3:n.1159A>G
NM_000322.5:c.454A>G MANE Select	NP_000313.2:p.Met152Val