Canonical Allele Identifier: CA2770821342

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722412T>C , CM000668.2:g.42722412T>C	GRCh38
NC_000006.11:g.42690150T>C , CM000668.1:g.42690150T>C	GRCh37
NC_000006.10:g.42798128T>C	NCBI36
NG_009176.1:g.5209A>G
NG_009176.2:g.5209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-78A>G MANE Select	ENSP00000230381.5:n.-78A>G
ENST00000230381.6:c.-78A>G	ENSP00000230381.5:n.-78A>G
NM_000322.4:c.-78A>G	NP_000313.2:n.-78A>G
XR_427834.2:n.578A>G
XR_926295.1:n.578A>G
XR_427834.4:n.628A>G
XR_926295.3:n.628A>G
NM_000322.5:c.-78A>G MANE Select	NP_000313.2:n.-78A>G