Canonical Allele Identifier: CA2499218273

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 1076115
• ClinVar RCV Id: RCV001389899
• dbSNP Id: rs2152005323

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704535_42704560del , CM000668.2:g.42704535_42704560del	GRCh38
NC_000006.11:g.42672273_42672298del , CM000668.1:g.42672273_42672298del	GRCh37
NC_000006.10:g.42780251_42780276del	NCBI36
NG_009176.1:g.23061_23086del
NG_009176.2:g.23061_23086del

Transcript Alleles

HGVS	Amino-acid change
ENST00000230381.7:c.633_658del MANE Select	ENSP00000230381.5:p.Phe211LeufsTer?
ENST00000230381.6:c.633_658del	ENSP00000230381.5:p.Phe211LeufsTer?
NM_000322.4:c.633_658del	NP_000313.2:p.Phe211LeufsTer?
XR_427834.2:n.1288_1313del
XR_926295.1:n.1470_1495del
XR_427834.4:n.1338_1363del
XR_926295.3:n.1520_1545del
NM_000322.5:c.633_658del MANE Select	NP_000313.2:p.Phe211LeufsTer?