Canonical Allele Identifier: CA10623455

Gene: PRKAG2

Linked Data

• ClinVar Variation Id: 359320
• ClinVar RCV Id: RCV000272209 ; RCV000386556
• dbSNP Id: rs7429
• gnomAD v2: 7-151253226-C-T
• gnomAD v3: 7-151556140-C-T
• gnomAD v4: 7-151556140-C-T
• MyVariant Identifiers: chr7:g.151253226C>T (hg19) ; chr7:g.151556140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151556140C>T , CM000669.2:g.151556140C>T	GRCh38
NC_000007.13:g.151253226C>T , CM000669.1:g.151253226C>T	GRCh37
NC_000007.12:g.150884159C>T	NCBI36
NG_007486.1:g.326091G>A
NG_007486.2:g.326092G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*1507G>A	ENSP00000420645.3:n.*1507G>A
ENST00000287878.9:c.*1061G>A MANE Select	ENSP00000287878.3:n.*1061G>A
ENST00000287878.8:c.*1061G>A	ENSP00000287878.3:n.*1061G>A
ENST00000418337.6:c.*1061G>A	ENSP00000387386.2:n.*1061G>A
NM_001040633.1:c.*1061G>A	NP_001035723.1:n.*1061G>A
NM_001304527.1:c.*1061G>A	NP_001291456.1:n.*1061G>A
NM_001304531.1:c.*1061G>A	NP_001291460.1:n.*1061G>A
NM_016203.3:c.*1061G>A	NP_057287.2:n.*1061G>A
NM_024429.1:c.*1061G>A	NP_077747.1:n.*1061G>A
XM_005250002.2:c.*4202G>A	XP_005250059.1:n.*4202G>A
XM_005250004.2:c.*4202G>A	XP_005250061.1:n.*4202G>A
XM_005250006.3:c.*4202G>A	XP_005250063.1:n.*4202G>A
XM_006716021.2:c.*4202G>A	XP_006716084.1:n.*4202G>A
XM_011516282.1:c.*4202G>A	XP_011514584.1:n.*4202G>A
XM_011516283.1:c.*1061G>A	XP_011514585.1:n.*1061G>A
XM_011516284.1:c.*1061G>A	XP_011514586.1:n.*1061G>A
XM_011516285.1:c.*4202G>A	XP_011514587.1:n.*4202G>A
XM_011516286.1:c.*4202G>A	XP_011514588.1:n.*4202G>A
XM_011516287.1:c.*4202G>A	XP_011514589.1:n.*4202G>A
NM_001363698.1:c.*1061G>A	NP_001350627.1:n.*1061G>A
XM_005250002.4:c.*4202G>A	XP_005250059.1:n.*4202G>A
XM_005250004.4:c.*4202G>A	XP_005250061.1:n.*4202G>A
XM_005250006.5:c.*4202G>A	XP_005250063.1:n.*4202G>A
XM_011516285.2:c.*4202G>A	XP_011514587.1:n.*4202G>A
XM_011516286.2:c.*4202G>A	XP_011514588.1:n.*4202G>A
XM_017012268.2:c.*4202G>A	XP_016867757.1:n.*4202G>A
XM_017012269.1:c.*1061G>A	XP_016867758.1:n.*1061G>A
XM_017012270.1:c.*1061G>A	XP_016867759.1:n.*1061G>A
XM_017012271.2:c.*1061G>A	XP_016867760.1:n.*1061G>A
XM_017012272.1:c.*1061G>A	XP_016867761.1:n.*1061G>A
XM_017012274.2:c.*4202G>A	XP_016867763.1:n.*4202G>A
XM_017012275.2:c.*4202G>A	XP_016867764.1:n.*4202G>A
XM_017012276.2:c.*1061G>A	XP_016867765.1:n.*1061G>A
XM_017012277.2:c.*1061G>A	XP_016867766.1:n.*1061G>A
XM_017012278.1:c.*1061G>A	XP_016867767.1:n.*1061G>A
XM_017012279.2:c.*1061G>A	XP_016867768.1:n.*1061G>A
XM_017012280.2:c.*1061G>A	XP_016867769.1:n.*1061G>A
XM_017012281.2:c.*1061G>A	XP_016867770.1:n.*1061G>A
XM_024446786.1:c.*4202G>A	XP_024302554.1:n.*4202G>A
XM_024446787.1:c.*4202G>A	XP_024302555.1:n.*4202G>A
XM_024446788.1:c.*4202G>A	XP_024302556.1:n.*4202G>A
XM_024446789.1:c.*1061G>A	XP_024302557.1:n.*1061G>A
NM_016203.4:c.*1061G>A MANE Select	NP_057287.2:n.*1061G>A
NM_001040633.2:c.*1061G>A	NP_001035723.1:n.*1061G>A
NM_001304527.2:c.*1061G>A	NP_001291456.1:n.*1061G>A
NM_001304531.2:c.*1061G>A	NP_001291460.1:n.*1061G>A
NM_001363698.2:c.*1061G>A	NP_001350627.1:n.*1061G>A
NM_024429.2:c.*1061G>A	NP_077747.1:n.*1061G>A