Canonical Allele Identifier: CA824851813

Gene: PRPH2

Linked Data

• dbSNP Id: rs1406350935
• MyVariant Identifiers: chr6:g.42690155G>A (hg19) ; chr6:g.42722417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722417G>A , CM000668.2:g.42722417G>A	GRCh38
NC_000006.11:g.42690155G>A , CM000668.1:g.42690155G>A	GRCh37
NC_000006.10:g.42798133G>A	NCBI36
NG_009176.1:g.5204C>T
NG_009176.2:g.5204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-83C>T MANE Select	ENSP00000230381.5:n.-83C>T
ENST00000230381.6:c.-83C>T	ENSP00000230381.5:n.-83C>T
NM_000322.4:c.-83C>T	NP_000313.2:n.-83C>T
XR_427834.2:n.573C>T
XR_926295.1:n.573C>T
XR_427834.4:n.623C>T
XR_926295.3:n.623C>T
NM_000322.5:c.-83C>T MANE Select	NP_000313.2:n.-83C>T