Canonical Allele Identifier: CA450244482

Gene: PRPH2

Linked Data

• dbSNP Id: rs1761920031
• gnomAD v4: 6-42722284-G-A
• MyVariant Identifiers: chr6:g.42690022G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722284G>A , CM000668.2:g.42722284G>A	GRCh38
NC_000006.11:g.42690022G>A , CM000668.1:g.42690022G>A	GRCh37
NC_000006.10:g.42798000G>A	NCBI36
NG_009176.1:g.5337C>T
NG_009176.2:g.5337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.51C>T MANE Select	ENSP00000230381.5:p.Ala17=
ENST00000230381.6:c.51C>T	ENSP00000230381.5:p.Ala17=
NM_000322.4:c.51C>T	NP_000313.2:p.Ala17=
XR_427834.2:n.706C>T
XR_926295.1:n.706C>T
XR_427834.4:n.756C>T
XR_926295.3:n.756C>T
NM_000322.5:c.51C>T MANE Select	NP_000313.2:p.Ala17=