Canonical Allele Identifier: CA10623896

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356746
• ClinVar RCV Id: RCV000272517 ; RCV000276387 ; RCV000325293 ; RCV000333810 ; RCV000363648 ; RCV000364766
• dbSNP Id: rs115252154
• gnomAD v2: 6-42664499-A-G
• gnomAD v3: 6-42696761-A-G
• gnomAD v4: 6-42696761-A-G
• MyVariant Identifiers: chr6:g.42664499A>G (hg19) ; chr6:g.42696761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42696761A>G , CM000668.2:g.42696761A>G	GRCh38
NC_000006.11:g.42664499A>G , CM000668.1:g.42664499A>G	GRCh37
NC_000006.10:g.42772477A>G	NCBI36
NG_009176.1:g.30860T>C
NG_009176.2:g.30860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*1534T>C MANE Select	ENSP00000230381.5:n.*1534T>C
ENST00000230381.6:c.*1534T>C	ENSP00000230381.5:n.*1534T>C
NM_000322.4:c.*1534T>C	NP_000313.2:n.*1534T>C
XR_926295.3:n.3462T>C
NM_000322.5:c.*1534T>C MANE Select	NP_000313.2:n.*1534T>C