Canonical Allele Identifier: CA364138519

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689895C>G (hg19) ; chr6:g.42722157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722157C>G , CM000668.2:g.42722157C>G	GRCh38
NC_000006.11:g.42689895C>G , CM000668.1:g.42689895C>G	GRCh37
NC_000006.10:g.42797873C>G	NCBI36
NG_009176.1:g.5464G>C
NG_009176.2:g.5464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.178G>C MANE Select	ENSP00000230381.5:p.Val60Leu
ENST00000230381.6:c.178G>C	ENSP00000230381.5:p.Val60Leu
NM_000322.4:c.178G>C	NP_000313.2:p.Val60Leu
XR_427834.2:n.833G>C
XR_926295.1:n.833G>C
XR_427834.4:n.883G>C
XR_926295.3:n.883G>C
NM_000322.5:c.178G>C MANE Select	NP_000313.2:p.Val60Leu