Canonical Allele Identifier: CA364137585

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689646C>T (hg19) ; chr6:g.42721908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721908C>T , CM000668.2:g.42721908C>T	GRCh38
NC_000006.11:g.42689646C>T , CM000668.1:g.42689646C>T	GRCh37
NC_000006.10:g.42797624C>T	NCBI36
NG_009176.1:g.5713G>A
NG_009176.2:g.5713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.427G>A MANE Select	ENSP00000230381.5:p.Asp143Asn
ENST00000230381.6:c.427G>A	ENSP00000230381.5:p.Asp143Asn
NM_000322.4:c.427G>A	NP_000313.2:p.Asp143Asn
XR_427834.2:n.1082G>A
XR_926295.1:n.1082G>A
XR_427834.4:n.1132G>A
XR_926295.3:n.1132G>A
NM_000322.5:c.427G>A MANE Select	NP_000313.2:p.Asp143Asn