Canonical Allele Identifier: CA10622100

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356757
• ClinVar RCV Id: RCV000273427 ; RCV000280293 ; RCV000316753 ; RCV000334178 ; RCV000367916 ; RCV000388660
• dbSNP Id: rs142990052
• gnomAD v2: 6-42665044-C-T
• gnomAD v3: 6-42697306-C-T
• gnomAD v4: 6-42697306-C-T
• MyVariant Identifiers: chr6:g.42665044C>T (hg19) ; chr6:g.42697306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42697306C>T , CM000668.2:g.42697306C>T	GRCh38
NC_000006.11:g.42665044C>T , CM000668.1:g.42665044C>T	GRCh37
NC_000006.10:g.42773022C>T	NCBI36
NG_009176.1:g.30315G>A
NG_009176.2:g.30315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*989G>A MANE Select	ENSP00000230381.5:n.*989G>A
ENST00000230381.6:c.*989G>A	ENSP00000230381.5:n.*989G>A
NM_000322.4:c.*989G>A	NP_000313.2:n.*989G>A
XR_926295.3:n.2917G>A
NM_000322.5:c.*989G>A MANE Select	NP_000313.2:n.*989G>A