Canonical Allele Identifier: CA341547576
Community Standard Title: NM_001368809.2(AMPD2):c.-119G>C
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109621057G>C , CM000663.2:g.109621057G>C GRCh38
NC_000001.10:g.110163679G>C , CM000663.1:g.110163679G>C GRCh37
NC_000001.9:g.109965202G>C NCBI36
NG_034075.1:g.6245G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.-119G>C MANE Select NP_001355738.1:n.-119G>C
ENST00000528667.7:c.-119G>C MANE Select ENSP00000436541.2:n.-119G>C
NM_001257360.1:c.44G>C NP_001244289.1:p.Cys15Ser
NM_001257360.2:c.44G>C NP_001244289.1:p.Cys15Ser
NM_001308170.1:c.-51G>C NP_001295099.1:n.-51G>C
NM_004037.7:c.44G>C NP_004028.3:p.Cys15Ser
NM_139156.3:c.10+779G>C NP_631895.1:n.10+779G>C
NM_139156.4:c.10+779G>C NP_631895.1:n.10+779G>C
ENST00000256578.7:c.44G>C ENSP00000256578.3:p.Cys15Ser
ENST00000256578.8:c.-119G>C ENSP00000256578.4:n.-119G>C
ENST00000342115.8:c.10+779G>C ENSP00000345498.4:n.10+779G>C
ENST00000469039.2:c.-51G>C ENSP00000436303.1:n.-51G>C
ENST00000474459.5:c.-379+779G>C ENSP00000432344.1:n.-379+779G>C
ENST00000474459.6:n.448+779G>C
ENST00000525415.2:n.140G>C
ENST00000526301.5:n.292+779G>C
ENST00000528667.5:c.44G>C ENSP00000436541.1:p.Cys15Ser
ENST00000531203.5:c.-271+406G>C ENSP00000431975.1:n.-271+406G>C
ENST00000531203.6:c.-271+406G>C ENSP00000431975.2:n.-271+406G>C
ENST00000531734.5:c.10+779G>C ENSP00000433739.1:n.10+779G>C
ENST00000531734.6:c.10+779G>C ENSP00000433739.2:n.10+779G>C
ENST00000655992.1:c.-102+779G>C ENSP00000499740.1:n.-102+779G>C
ENST00000667949.2:c.-379+779G>C ENSP00000499465.2:n.-379+779G>C
ENST00000679593.1:c.-119G>C ENSP00000505999.1:n.-119G>C
ENST00000679880.1:n.140G>C
ENST00000679892.1:c.-119G>C ENSP00000504882.1:n.-119G>C
ENST00000679981.1:c.-119G>C ENSP00000506422.1:n.-119G>C
ENST00000680132.1:c.-119G>C ENSP00000505950.1:n.-119G>C
ENST00000680148.1:c.-119G>C ENSP00000505994.1:n.-119G>C
ENST00000680170.1:n.140G>C
ENST00000680192.1:n.442+779G>C
ENST00000680519.1:n.442+779G>C
ENST00000680531.1:c.-119G>C ENSP00000506332.1:n.-119G>C
ENST00000680820.1:c.-119G>C ENSP00000505735.1:n.-119G>C
ENST00000680832.1:c.-119G>C ENSP00000505774.1:n.-119G>C
ENST00000680929.1:c.-119G>C ENSP00000504916.1:n.-119G>C
ENST00000681108.1:c.-119G>C ENSP00000506701.1:n.-119G>C
ENST00000681132.1:c.-119G>C ENSP00000506195.1:n.-119G>C
ENST00000681181.1:c.-119G>C ENSP00000506038.1:n.-119G>C
ENST00000681218.1:c.-119G>C ENSP00000505976.1:n.-119G>C
ENST00000681246.1:c.-119G>C ENSP00000505534.1:n.-119G>C
ENST00000681496.1:c.-119G>C ENSP00000505948.1:n.-119G>C
ENST00000681834.1:n.90G>C
ENST00000681862.1:c.-119G>C ENSP00000505537.1:n.-119G>C
XM_011541247.1:c.597+779G>C XP_011539549.1:n.597+779G>C
XM_011541248.1:c.597+779G>C XP_011539550.1:n.597+779G>C
XM_024446431.1:c.-51G>C XP_024302199.1:n.-51G>C
XM_024446432.1:c.-51G>C XP_024302200.1:n.-51G>C
XR_002956282.1:n.586G>C
XR_946607.1:n.620+779G>C