Canonical Allele Identifier: CA370070704

Gene: PRKAG2

Linked Data

• MyVariant Identifiers: chr7:g.151261292T>G (hg19) ; chr7:g.151564206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151564206T>G , CM000669.2:g.151564206T>G	GRCh38
NC_000007.13:g.151261292T>G , CM000669.1:g.151261292T>G	GRCh37
NC_000007.12:g.150892225T>G	NCBI36
NG_007486.1:g.318025A>C
NG_007486.2:g.318026A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478989.7:c.*192A>C	ENSP00000420645.3:n.*192A>C
ENST00000652321.2:c.1453A>C	ENSP00000498886.2:p.Thr485Pro
ENST00000287878.9:c.1456A>C MANE Select	ENSP00000287878.3:p.Thr486Pro
ENST00000476632.2:c.733A>C	ENSP00000419493.2:p.Thr245Pro
ENST00000478989.6:c.557A>C
ENST00000492843.6:c.1081A>C	ENSP00000419577.2:p.Thr361Pro
ENST00000650851.1:n.950A>C
ENST00000650858.1:c.673A>C	ENSP00000498384.1:p.Thr225Pro
ENST00000650948.1:n.3842A>C
ENST00000651188.1:c.*569A>C	ENSP00000498557.1:n.*569A>C
ENST00000651303.1:c.*775A>C	ENSP00000498428.1:n.*775A>C
ENST00000651378.1:c.733A>C	ENSP00000499103.1:p.Thr245Pro
ENST00000651764.1:c.1324A>C	ENSP00000498796.1:p.Thr442Pro
ENST00000651836.1:c.1646A>C	ENSP00000499156.1:n.1646A>C
ENST00000651954.1:n.1672A>C
ENST00000652047.1:c.1321A>C	ENSP00000499111.1:p.Thr441Pro
ENST00000652136.1:n.2003A>C
ENST00000652159.1:c.1324A>C	ENSP00000499025.1:p.Thr442Pro
ENST00000652397.1:c.*192A>C	ENSP00000498351.1:n.*192A>C
ENST00000287878.8:c.1456A>C	ENSP00000287878.3:p.Thr486Pro
ENST00000392801.6:c.1324A>C	ENSP00000376549.2:p.Thr442Pro
ENST00000418337.6:c.733A>C	ENSP00000387386.2:p.Thr245Pro
ENST00000478989.5:c.*192A>C	ENSP00000420645.1:n.*192A>C
ENST00000479461.1:n.108A>C
ENST00000485183.1:n.109A>C
ENST00000492843.5:c.1084A>C	ENSP00000419577.1:p.Thr362Pro
NM_001040633.1:c.1324A>C	NP_001035723.1:p.Thr442Pro
NM_001304527.1:c.1081A>C	NP_001291456.1:p.Thr361Pro
NM_001304531.1:c.733A>C	NP_001291460.1:p.Thr245Pro
NM_016203.3:c.1456A>C	NP_057287.2:p.Thr486Pro
NM_024429.1:c.733A>C	NP_077747.1:p.Thr245Pro
XM_005250002.2:c.1456A>C	XP_005250059.1:p.Thr486Pro
XM_005250004.2:c.1324A>C	XP_005250061.1:p.Thr442Pro
XM_005250006.3:c.1084A>C	XP_005250063.1:p.Thr362Pro
XM_006716021.2:c.1444A>C	XP_006716084.1:p.Thr482Pro
XM_011516282.1:c.1441A>C	XP_011514584.1:p.Thr481Pro
XM_011516283.1:c.1444A>C	XP_011514585.1:p.Thr482Pro
XM_011516284.1:c.1441A>C	XP_011514586.1:p.Thr481Pro
XM_011516285.1:c.733A>C	XP_011514587.1:p.Thr245Pro
XM_011516286.1:c.709A>C	XP_011514588.1:p.Thr237Pro
XM_011516287.1:c.673A>C	XP_011514589.1:p.Thr225Pro
NM_001363698.1:c.1084A>C	NP_001350627.1:p.Thr362Pro
XM_005250002.4:c.1456A>C	XP_005250059.1:p.Thr486Pro
XM_005250004.4:c.1324A>C	XP_005250061.1:p.Thr442Pro
XM_005250006.5:c.1084A>C	XP_005250063.1:p.Thr362Pro
XM_011516285.2:c.733A>C	XP_011514587.1:p.Thr245Pro
XM_011516286.2:c.709A>C	XP_011514588.1:p.Thr237Pro
XM_017012268.2:c.1321A>C	XP_016867757.1:p.Thr441Pro
XM_017012269.1:c.1453A>C	XP_016867758.1:p.Thr485Pro
XM_017012270.1:c.1324A>C	XP_016867759.1:p.Thr442Pro
XM_017012271.2:c.1321A>C	XP_016867760.1:p.Thr441Pro
XM_017012272.1:c.1321A>C	XP_016867761.1:p.Thr441Pro
XM_017012274.2:c.730A>C	XP_016867763.1:p.Thr244Pro
XM_017012275.2:c.673A>C	XP_016867764.1:p.Thr225Pro
XM_017012276.2:c.730A>C	XP_016867765.1:p.Thr244Pro
XM_017012277.2:c.709A>C	XP_016867766.1:p.Thr237Pro
XM_017012278.1:c.673A>C	XP_016867767.1:p.Thr225Pro
XM_017012279.2:c.673A>C	XP_016867768.1:p.Thr225Pro
XM_017012280.2:c.673A>C	XP_016867769.1:p.Thr225Pro
XM_017012281.2:c.673A>C	XP_016867770.1:p.Thr225Pro
XM_024446786.1:c.1324A>C	XP_024302554.1:p.Thr442Pro
XM_024446787.1:c.733A>C	XP_024302555.1:p.Thr245Pro
XM_024446788.1:c.730A>C	XP_024302556.1:p.Thr244Pro
XM_024446789.1:c.733A>C	XP_024302557.1:p.Thr245Pro
NM_016203.4:c.1456A>C MANE Select	NP_057287.2:p.Thr486Pro
NM_001040633.2:c.1324A>C	NP_001035723.1:p.Thr442Pro
NM_001304527.2:c.1081A>C	NP_001291456.1:p.Thr361Pro
NM_001304531.2:c.733A>C	NP_001291460.1:p.Thr245Pro
NM_001363698.2:c.1084A>C	NP_001350627.1:p.Thr362Pro
NM_024429.2:c.733A>C	NP_077747.1:p.Thr245Pro