Canonical Allele Identifier: CA578731602

Gene: PRKAG2

Linked Data

• gnomAD v2: 7-151253245-T-G
• gnomAD v3: 7-151556159-T-G
• gnomAD v4: 7-151556159-T-G
• MyVariant Identifiers: chr7:g.151253245T>G (hg19) ; chr7:g.151556159T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151556159T>G , CM000669.2:g.151556159T>G	GRCh38
NC_000007.13:g.151253245T>G , CM000669.1:g.151253245T>G	GRCh37
NC_000007.12:g.150884178T>G	NCBI36
NG_007486.1:g.326072A>C
NG_007486.2:g.326073A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*1488A>C	ENSP00000420645.3:n.*1488A>C
ENST00000287878.9:c.*1042A>C MANE Select	ENSP00000287878.3:n.*1042A>C
ENST00000287878.8:c.*1042A>C	ENSP00000287878.3:n.*1042A>C
ENST00000418337.6:c.*1042A>C	ENSP00000387386.2:n.*1042A>C
NM_001040633.1:c.*1042A>C	NP_001035723.1:n.*1042A>C
NM_001304527.1:c.*1042A>C	NP_001291456.1:n.*1042A>C
NM_001304531.1:c.*1042A>C	NP_001291460.1:n.*1042A>C
NM_016203.3:c.*1042A>C	NP_057287.2:n.*1042A>C
NM_024429.1:c.*1042A>C	NP_077747.1:n.*1042A>C
XM_005250002.2:c.*4183A>C	XP_005250059.1:n.*4183A>C
XM_005250004.2:c.*4183A>C	XP_005250061.1:n.*4183A>C
XM_005250006.3:c.*4183A>C	XP_005250063.1:n.*4183A>C
XM_006716021.2:c.*4183A>C	XP_006716084.1:n.*4183A>C
XM_011516282.1:c.*4183A>C	XP_011514584.1:n.*4183A>C
XM_011516283.1:c.*1042A>C	XP_011514585.1:n.*1042A>C
XM_011516284.1:c.*1042A>C	XP_011514586.1:n.*1042A>C
XM_011516285.1:c.*4183A>C	XP_011514587.1:n.*4183A>C
XM_011516286.1:c.*4183A>C	XP_011514588.1:n.*4183A>C
XM_011516287.1:c.*4183A>C	XP_011514589.1:n.*4183A>C
NM_001363698.1:c.*1042A>C	NP_001350627.1:n.*1042A>C
XM_005250002.4:c.*4183A>C	XP_005250059.1:n.*4183A>C
XM_005250004.4:c.*4183A>C	XP_005250061.1:n.*4183A>C
XM_005250006.5:c.*4183A>C	XP_005250063.1:n.*4183A>C
XM_011516285.2:c.*4183A>C	XP_011514587.1:n.*4183A>C
XM_011516286.2:c.*4183A>C	XP_011514588.1:n.*4183A>C
XM_017012268.2:c.*4183A>C	XP_016867757.1:n.*4183A>C
XM_017012269.1:c.*1042A>C	XP_016867758.1:n.*1042A>C
XM_017012270.1:c.*1042A>C	XP_016867759.1:n.*1042A>C
XM_017012271.2:c.*1042A>C	XP_016867760.1:n.*1042A>C
XM_017012272.1:c.*1042A>C	XP_016867761.1:n.*1042A>C
XM_017012274.2:c.*4183A>C	XP_016867763.1:n.*4183A>C
XM_017012275.2:c.*4183A>C	XP_016867764.1:n.*4183A>C
XM_017012276.2:c.*1042A>C	XP_016867765.1:n.*1042A>C
XM_017012277.2:c.*1042A>C	XP_016867766.1:n.*1042A>C
XM_017012278.1:c.*1042A>C	XP_016867767.1:n.*1042A>C
XM_017012279.2:c.*1042A>C	XP_016867768.1:n.*1042A>C
XM_017012280.2:c.*1042A>C	XP_016867769.1:n.*1042A>C
XM_017012281.2:c.*1042A>C	XP_016867770.1:n.*1042A>C
XM_024446786.1:c.*4183A>C	XP_024302554.1:n.*4183A>C
XM_024446787.1:c.*4183A>C	XP_024302555.1:n.*4183A>C
XM_024446788.1:c.*4183A>C	XP_024302556.1:n.*4183A>C
XM_024446789.1:c.*1042A>C	XP_024302557.1:n.*1042A>C
NM_016203.4:c.*1042A>C MANE Select	NP_057287.2:n.*1042A>C
NM_001040633.2:c.*1042A>C	NP_001035723.1:n.*1042A>C
NM_001304527.2:c.*1042A>C	NP_001291456.1:n.*1042A>C
NM_001304531.2:c.*1042A>C	NP_001291460.1:n.*1042A>C
NM_001363698.2:c.*1042A>C	NP_001350627.1:n.*1042A>C
NM_024429.2:c.*1042A>C	NP_077747.1:n.*1042A>C