Canonical Allele Identifier: CA10623932

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 356763
• ClinVar RCV Id: RCV000262315 ; RCV000266583 ; RCV000297565 ; RCV000303507 ; RCV000357058 ; RCV000358325
• dbSNP Id: rs573416213
• gnomAD v2: 6-42665441-T-A
• gnomAD v3: 6-42697703-T-A
• gnomAD v4: 6-42697703-T-A
• MyVariant Identifiers: chr6:g.42665441T>A (hg19) ; chr6:g.42697703T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42697703T>A , CM000668.2:g.42697703T>A	GRCh38
NC_000006.11:g.42665441T>A , CM000668.1:g.42665441T>A	GRCh37
NC_000006.10:g.42773419T>A	NCBI36
NG_009176.1:g.29918A>T
NG_009176.2:g.29918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.*592A>T MANE Select	ENSP00000230381.5:n.*592A>T
ENST00000230381.6:c.*592A>T	ENSP00000230381.5:n.*592A>T
NM_000322.4:c.*592A>T	NP_000313.2:n.*592A>T
XR_926295.3:n.2520A>T
NM_000322.5:c.*592A>T MANE Select	NP_000313.2:n.*592A>T