Canonical Allele Identifier: CA357162410

Gene: PRKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.81135226G>A , CM000666.2:g.81135226G>A	GRCh38
NC_000004.11:g.82056380G>A , CM000666.1:g.82056380G>A	GRCh37
NC_000004.10:g.82275404G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006259.3:c.1705C>T MANE Select	NP_006250.1:p.Arg569Ter
ENST00000264399.6:c.1705C>T MANE Select	ENSP00000264399.1:p.Arg569Ter
NM_001282480.1:c.445C>T	NP_001269409.1:p.Arg149Ter
NM_001282481.1:c.445C>T	NP_001269410.1:p.Arg149Ter
NM_001282482.1:c.358C>T	NP_001269411.1:p.Arg120Ter
NM_001282483.1:c.265C>T	NP_001269412.1:p.Arg89Ter
NM_001282485.1:c.1618C>T	NP_001269414.1:p.Arg540Ter
NM_001282485.2:c.1618C>T	NP_001269414.1:p.Arg540Ter
NM_001363401.1:c.1705C>T	NP_001350330.1:p.Arg569Ter
NM_001363401.2:c.1705C>T	NP_001350330.1:p.Arg569Ter
NM_006259.2:c.1705C>T	NP_006250.1:p.Arg569Ter
ENST00000264399.5:c.1705C>T	ENSP00000264399.1:p.Arg569Ter
ENST00000395578.3:c.1705C>T	ENSP00000378945.1:p.Arg569Ter
ENST00000509169.5:n.975C>T
ENST00000509474.5:n.945C>T
ENST00000545647.5:c.445C>T	ENSP00000439967.1:p.Arg149Ter
ENST00000628926.1:c.1618C>T	ENSP00000486129.1:p.Arg540Ter
XM_005263126.2:c.1705C>T	XP_005263183.1:p.Arg569Ter
XM_006714266.2:c.265C>T	XP_006714329.1:p.Arg89Ter
XM_011532114.1:c.1705C>T	XP_011530416.1:p.Arg569Ter
XM_011532115.1:c.1705C>T	XP_011530417.1:p.Arg569Ter
XM_017008413.1:c.1705C>T	XP_016863902.1:p.Arg569Ter
XM_017008414.1:c.1705C>T	XP_016863903.1:p.Arg569Ter
XM_017008415.1:c.1705C>T	XP_016863904.1:p.Arg569Ter
XM_017008416.1:c.1705C>T	XP_016863905.1:p.Arg569Ter
XM_017008417.1:c.1618C>T	XP_016863906.1:p.Arg540Ter