Canonical Allele Identifier: CA364138726

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689951A>T (hg19) ; chr6:g.42722213A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722213A>T , CM000668.2:g.42722213A>T	GRCh38
NC_000006.11:g.42689951A>T , CM000668.1:g.42689951A>T	GRCh37
NC_000006.10:g.42797929A>T	NCBI36
NG_009176.1:g.5408T>A
NG_009176.2:g.5408T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.122T>A MANE Select	ENSP00000230381.5:p.Leu41Gln
ENST00000230381.6:c.122T>A	ENSP00000230381.5:p.Leu41Gln
NM_000322.4:c.122T>A	NP_000313.2:p.Leu41Gln
XR_427834.2:n.777T>A
XR_926295.1:n.777T>A
XR_427834.4:n.827T>A
XR_926295.3:n.827T>A
NM_000322.5:c.122T>A MANE Select	NP_000313.2:p.Leu41Gln