Canonical Allele Identifier: CA364137758

Gene: PRPH2

Linked Data

• gnomAD v4: 6-42721992-C-T
• MyVariant Identifiers: chr6:g.42689730C>T (hg19) ; chr6:g.42721992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721992C>T , CM000668.2:g.42721992C>T	GRCh38
NC_000006.11:g.42689730C>T , CM000668.1:g.42689730C>T	GRCh37
NC_000006.10:g.42797708C>T	NCBI36
NG_009176.1:g.5629G>A
NG_009176.2:g.5629G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230381.7:c.343G>A MANE Select	ENSP00000230381.5:p.Val115Met
ENST00000230381.6:c.343G>A	ENSP00000230381.5:p.Val115Met
NM_000322.4:c.343G>A	NP_000313.2:p.Val115Met
XR_427834.2:n.998G>A
XR_926295.1:n.998G>A
XR_427834.4:n.1048G>A
XR_926295.3:n.1048G>A
NM_000322.5:c.343G>A MANE Select	NP_000313.2:p.Val115Met