Canonical Allele Identifier: CA2685701439
Gene: PRKAG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151632053G>C , CM000669.2:g.151632053G>C GRCh38
NC_000007.13:g.151329139G>C , CM000669.1:g.151329139G>C GRCh37
NC_000007.12:g.150960072G>C NCBI36
NG_007486.1:g.250178C>G
NG_007486.2:g.250179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478989.7:c.31+16C>G ENSP00000420645.3:n.31+16C>G
ENST00000652321.2:c.754+16C>G ENSP00000498886.2:n.754+16C>G
ENST00000287878.9:c.754+16C>G MANE Select ENSP00000287878.3:n.754+16C>G
ENST00000476632.2:c.31+16C>G ENSP00000419493.2:n.31+16C>G
ENST00000491938.6:n.100+16C>G
ENST00000492843.6:c.382+16C>G ENSP00000419577.2:n.382+16C>G
ENST00000650858.1:c.-29-36599C>G ENSP00000498384.1:n.-29-36599C>G
ENST00000650948.1:n.869+16C>G
ENST00000651188.1:c.553-36602C>G ENSP00000498557.1:n.553-36602C>G
ENST00000651303.1:c.622+16C>G ENSP00000498428.1:n.622+16C>G
ENST00000651378.1:c.31+16C>G ENSP00000499103.1:n.31+16C>G
ENST00000651764.1:c.622+16C>G ENSP00000498796.1:n.622+16C>G
ENST00000651836.1:c.525+16C>G ENSP00000499156.1:n.525+16C>G
ENST00000652047.1:c.622+16C>G ENSP00000499111.1:n.622+16C>G
ENST00000652136.1:n.490+16C>G
ENST00000652159.1:c.622+16C>G ENSP00000499025.1:n.622+16C>G
ENST00000652321.1:c.754+16C>G ENSP00000498886.1:n.754+16C>G
ENST00000652397.1:c.31+16C>G ENSP00000498351.1:n.31+16C>G
ENST00000652572.1:n.135+16C>G
ENST00000652707.1:c.622+16C>G ENSP00000498954.1:n.622+16C>G
ENST00000287878.8:c.754+16C>G ENSP00000287878.3:n.754+16C>G
ENST00000392801.6:c.622+16C>G ENSP00000376549.2:n.622+16C>G
ENST00000418337.6:c.31+16C>G ENSP00000387386.2:n.31+16C>G
ENST00000476632.1:c.31+16C>G ENSP00000419493.1:n.31+16C>G
ENST00000483775.1:n.159+16C>G
ENST00000488258.5:c.685-36599C>G ENSP00000420783.1:n.685-36599C>G
ENST00000491938.5:n.100+16C>G
ENST00000492843.5:c.382+16C>G ENSP00000419577.1:n.382+16C>G
ENST00000493872.5:c.31+16C>G ENSP00000417252.1:n.31+16C>G
NM_001040633.1:c.622+16C>G NP_001035723.1:n.622+16C>G
NM_001304527.1:c.382+16C>G NP_001291456.1:n.382+16C>G
NM_001304531.1:c.31+16C>G NP_001291460.1:n.31+16C>G
NM_016203.3:c.754+16C>G NP_057287.2:n.754+16C>G
NM_024429.1:c.31+16C>G NP_077747.1:n.31+16C>G
XM_005250002.2:c.754+16C>G XP_005250059.1:n.754+16C>G
XM_005250004.2:c.622+16C>G XP_005250061.1:n.622+16C>G
XM_005250006.3:c.382+16C>G XP_005250063.1:n.382+16C>G
XM_006716021.2:c.742+16C>G XP_006716084.1:n.742+16C>G
XM_011516282.1:c.742+16C>G XP_011514584.1:n.742+16C>G
XM_011516283.1:c.742+16C>G XP_011514585.1:n.742+16C>G
XM_011516284.1:c.742+16C>G XP_011514586.1:n.742+16C>G
XM_011516285.1:c.31+16C>G XP_011514587.1:n.31+16C>G
XM_011516287.1:c.-29-36599C>G XP_011514589.1:n.-29-36599C>G
NM_001363698.1:c.382+16C>G NP_001350627.1:n.382+16C>G
XM_005250002.4:c.754+16C>G XP_005250059.1:n.754+16C>G
XM_005250004.4:c.622+16C>G XP_005250061.1:n.622+16C>G
XM_005250006.5:c.382+16C>G XP_005250063.1:n.382+16C>G
XM_011516285.2:c.31+16C>G XP_011514587.1:n.31+16C>G
XM_017012268.2:c.622+16C>G XP_016867757.1:n.622+16C>G
XM_017012269.1:c.754+16C>G XP_016867758.1:n.754+16C>G
XM_017012270.1:c.622+16C>G XP_016867759.1:n.622+16C>G
XM_017012271.2:c.622+16C>G XP_016867760.1:n.622+16C>G
XM_017012272.1:c.622+16C>G XP_016867761.1:n.622+16C>G
XM_017012274.2:c.31+16C>G XP_016867763.1:n.31+16C>G
XM_017012275.2:c.-26-36602C>G XP_016867764.1:n.-26-36602C>G
XM_017012276.2:c.31+16C>G XP_016867765.1:n.31+16C>G
XM_017012278.1:c.-29-36599C>G XP_016867767.1:n.-29-36599C>G
XM_017012279.2:c.-29-36599C>G XP_016867768.1:n.-29-36599C>G
XM_017012280.2:c.-26-36602C>G XP_016867769.1:n.-26-36602C>G
XM_017012281.2:c.-26-36602C>G XP_016867770.1:n.-26-36602C>G
XM_024446786.1:c.622+16C>G XP_024302554.1:n.622+16C>G
XM_024446787.1:c.31+16C>G XP_024302555.1:n.31+16C>G
XM_024446788.1:c.31+16C>G XP_024302556.1:n.31+16C>G
XM_024446789.1:c.31+16C>G XP_024302557.1:n.31+16C>G
NM_016203.4:c.754+16C>G MANE Select NP_057287.2:n.754+16C>G
NM_001040633.2:c.622+16C>G NP_001035723.1:n.622+16C>G
NM_001304527.2:c.382+16C>G NP_001291456.1:n.382+16C>G
NM_001304531.2:c.31+16C>G NP_001291460.1:n.31+16C>G
NM_001363698.2:c.382+16C>G NP_001350627.1:n.382+16C>G
NM_024429.2:c.31+16C>G NP_077747.1:n.31+16C>G