Canonical Allele Identifier: CA226319

Gene: PRPH2

Linked Data

• ClinVar Variation Id: 98713
• ClinVar RCV Id: RCV000085026 ; RCV001047656 ; RCV001073686 ; RCV001250345 ; RCV001250359 ; RCV001250344 ; RCV001542666 ; RCV001250346 ; RCV001250347 ; RCV001250357 ; RCV001250358
• dbSNP Id: rs281865373
• ExAC: 6:42672100 T / A
• gnomAD v2: 6-42672100-T-A
• gnomAD v4: 6-42704362-T-A
• MyVariant Identifiers: chr6:g.42672100T>A (hg19) ; chr6:g.42704362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704362T>A , CM000668.2:g.42704362T>A	GRCh38
NC_000006.11:g.42672100T>A , CM000668.1:g.42672100T>A	GRCh37
NC_000006.10:g.42780078T>A	NCBI36
NG_009176.1:g.23259A>T
NG_009176.2:g.23259A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.828+3A>T MANE Select	ENSP00000230381.5:n.828+3A>T
ENST00000230381.6:c.828+3A>T	ENSP00000230381.5:n.828+3A>T
NM_000322.4:c.828+3A>T	NP_000313.2:n.828+3A>T
XR_427834.2:n.1483+3A>T
XR_427834.4:n.1533+3A>T
XR_926295.3:n.1715+3A>T
NM_000322.5:c.828+3A>T MANE Select	NP_000313.2:n.828+3A>T