Canonical Allele Identifier: CA357163586
Community Standard Title: NM_006259.3(PRKG2):c.1409T>G (p.Val470Gly)
Gene: PRKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.81140668A>C , CM000666.2:g.81140668A>C GRCh38
NC_000004.11:g.82061822A>C , CM000666.1:g.82061822A>C GRCh37
NC_000004.10:g.82280846A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006259.3:c.1409T>G MANE Select NP_006250.1:p.Val470Gly
ENST00000264399.6:c.1409T>G MANE Select ENSP00000264399.1:p.Val470Gly
NM_001282480.1:c.149T>G NP_001269409.1:p.Val50Gly
NM_001282481.1:c.149T>G NP_001269410.1:p.Val50Gly
NM_001282482.1:c.62T>G NP_001269411.1:p.Val21Gly
NM_001282483.1:c.-32T>G NP_001269412.1:n.-32T>G
NM_001282485.1:c.1322T>G NP_001269414.1:p.Val441Gly
NM_001282485.2:c.1322T>G NP_001269414.1:p.Val441Gly
NM_001363401.1:c.1409T>G NP_001350330.1:p.Val470Gly
NM_001363401.2:c.1409T>G NP_001350330.1:p.Val470Gly
NM_006259.2:c.1409T>G NP_006250.1:p.Val470Gly
ENST00000264399.5:c.1409T>G ENSP00000264399.1:p.Val470Gly
ENST00000395578.3:c.1409T>G ENSP00000378945.1:p.Val470Gly
ENST00000456882.2:n.453T>G
ENST00000509169.5:n.679T>G
ENST00000509474.5:n.649T>G
ENST00000545647.5:c.149T>G ENSP00000439967.1:p.Val50Gly
ENST00000628926.1:c.1322T>G ENSP00000486129.1:p.Val441Gly
XM_005263126.2:c.1409T>G XP_005263183.1:p.Val470Gly
XM_006714266.2:c.-32T>G XP_006714329.1:n.-32T>G
XM_011532114.1:c.1409T>G XP_011530416.1:p.Val470Gly
XM_011532115.1:c.1409T>G XP_011530417.1:p.Val470Gly
XM_011532116.1:c.1386T>G XP_011530418.1:p.Gly462=
XM_017008413.1:c.1409T>G XP_016863902.1:p.Val470Gly
XM_017008414.1:c.1409T>G XP_016863903.1:p.Val470Gly
XM_017008415.1:c.1409T>G XP_016863904.1:p.Val470Gly
XM_017008416.1:c.1409T>G XP_016863905.1:p.Val470Gly
XM_017008417.1:c.1322T>G XP_016863906.1:p.Val441Gly
XM_017008418.1:c.1386T>G XP_016863907.1:p.Gly462=