Canonical Allele Identifier: CA99611055
Gene: PRKG2 HGNC NCBI

Linked Data

dbSNP Id: rs890278240
gnomAD v3: 4-81201580-A-G
gnomAD v4: 4-81201580-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.81201580A>G , CM000666.2:g.81201580A>G GRCh38
NC_000004.11:g.82122734A>G , CM000666.1:g.82122734A>G GRCh37
NC_000004.10:g.82341758A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264399.6:c.461+3007T>C MANE Select ENSP00000264399.1:n.461+3007T>C
ENST00000264399.5:c.461+3007T>C ENSP00000264399.1:n.461+3007T>C
ENST00000395578.3:c.461+3007T>C ENSP00000378945.1:n.461+3007T>C
ENST00000628926.1:c.461+3007T>C ENSP00000486129.1:n.461+3007T>C
NM_001282485.1:c.461+3007T>C NP_001269414.1:n.461+3007T>C
NM_006259.2:c.461+3007T>C NP_006250.1:n.461+3007T>C
XM_005263126.2:c.461+3007T>C XP_005263183.1:n.461+3007T>C
XM_011532114.1:c.461+3007T>C XP_011530416.1:n.461+3007T>C
XM_011532115.1:c.461+3007T>C XP_011530417.1:n.461+3007T>C
XM_011532116.1:c.461+3007T>C XP_011530418.1:n.461+3007T>C
NM_001363401.1:c.461+3007T>C NP_001350330.1:n.461+3007T>C
XM_017008413.1:c.461+3007T>C XP_016863902.1:n.461+3007T>C
XM_017008414.1:c.461+3007T>C XP_016863903.1:n.461+3007T>C
XM_017008415.1:c.461+3007T>C XP_016863904.1:n.461+3007T>C
XM_017008416.1:c.461+3007T>C XP_016863905.1:n.461+3007T>C
XM_017008417.1:c.461+3007T>C XP_016863906.1:n.461+3007T>C
XM_017008418.1:c.461+3007T>C XP_016863907.1:n.461+3007T>C
NM_001282485.2:c.461+3007T>C NP_001269414.1:n.461+3007T>C
NM_001363401.2:c.461+3007T>C NP_001350330.1:n.461+3007T>C
NM_006259.3:c.461+3007T>C MANE Select NP_006250.1:n.461+3007T>C