Canonical Allele Identifier: CA364138600

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689909G>A (hg19) ; chr6:g.42722171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722171G>A , CM000668.2:g.42722171G>A	GRCh38
NC_000006.11:g.42689909G>A , CM000668.1:g.42689909G>A	GRCh37
NC_000006.10:g.42797887G>A	NCBI36
NG_009176.1:g.5450C>T
NG_009176.2:g.5450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.164C>T MANE Select	ENSP00000230381.5:p.Ser55Phe
ENST00000230381.6:c.164C>T	ENSP00000230381.5:p.Ser55Phe
NM_000322.4:c.164C>T	NP_000313.2:p.Ser55Phe
XR_427834.2:n.819C>T
XR_926295.1:n.819C>T
XR_427834.4:n.869C>T
XR_926295.3:n.869C>T
NM_000322.5:c.164C>T MANE Select	NP_000313.2:p.Ser55Phe