Canonical Allele Identifier: CA2770821340

Gene: PRPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722382C>A , CM000668.2:g.42722382C>A	GRCh38
NC_000006.11:g.42690120C>A , CM000668.1:g.42690120C>A	GRCh37
NC_000006.10:g.42798098C>A	NCBI36
NG_009176.1:g.5239G>T
NG_009176.2:g.5239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.-48G>T MANE Select	ENSP00000230381.5:n.-48G>T
ENST00000230381.6:c.-48G>T	ENSP00000230381.5:n.-48G>T
NM_000322.4:c.-48G>T	NP_000313.2:n.-48G>T
XR_427834.2:n.608G>T
XR_926295.1:n.608G>T
XR_427834.4:n.658G>T
XR_926295.3:n.658G>T
NM_000322.5:c.-48G>T MANE Select	NP_000313.2:n.-48G>T