Canonical Allele Identifier: CA364138555

Gene: PRPH2

Linked Data

• gnomAD v4: 6-42722163-G-A
• MyVariant Identifiers: chr6:g.42689901G>A (hg19) ; chr6:g.42722163G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722163G>A , CM000668.2:g.42722163G>A	GRCh38
NC_000006.11:g.42689901G>A , CM000668.1:g.42689901G>A	GRCh37
NC_000006.10:g.42797879G>A	NCBI36
NG_009176.1:g.5458C>T
NG_009176.2:g.5458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.172C>T MANE Select	ENSP00000230381.5:p.His58Tyr
ENST00000230381.6:c.172C>T	ENSP00000230381.5:p.His58Tyr
NM_000322.4:c.172C>T	NP_000313.2:p.His58Tyr
XR_427834.2:n.827C>T
XR_926295.1:n.827C>T
XR_427834.4:n.877C>T
XR_926295.3:n.877C>T
NM_000322.5:c.172C>T MANE Select	NP_000313.2:p.His58Tyr