Canonical Allele Identifier: CA8505504

Gene: AP2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35674227A>G , CM000679.2:g.35674227A>G	GRCh38
NC_000017.10:g.34001246A>G , CM000679.1:g.34001246A>G	GRCh37
NC_000017.9:g.31025359A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001030006.2:c.2230A>G MANE Select	NP_001025177.1:p.Thr744Ala
ENST00000610402.5:c.2230A>G MANE Select	ENSP00000483185.1:p.Thr744Ala
NM_001030006.1:c.2230A>G	NP_001025177.1:p.Thr744Ala
NM_001282.2:c.2188A>G	NP_001273.1:p.Thr730Ala
NM_001282.3:c.2188A>G	NP_001273.1:p.Thr730Ala
ENST00000610402.4:c.2230A>G	ENSP00000483185.1:p.Thr744Ala
ENST00000612116.5:c.*199A>G	ENSP00000478115.1:n.*199A>G
ENST00000616681.4:c.2116A>G	ENSP00000484708.1:p.Thr706Ala
ENST00000618940.4:c.2230A>G	ENSP00000482835.1:p.Thr744Ala
ENST00000620039.4:c.*2124A>G	ENSP00000481246.1:n.*2124A>G
ENST00000621914.4:c.2188A>G	ENSP00000482315.1:p.Thr730Ala
XM_005257937.2:c.2230A>G	XP_005257994.1:p.Thr744Ala
XM_005257937.4:c.2230A>G	XP_005257994.1:p.Thr744Ala
XM_005257938.1:c.2230A>G	XP_005257995.1:p.Thr744Ala
XM_005257938.3:c.2230A>G	XP_005257995.1:p.Thr744Ala
XM_011524448.1:c.2230A>G	XP_011522750.1:p.Thr744Ala
XM_011524448.2:c.2230A>G	XP_011522750.1:p.Thr744Ala
XM_011524449.1:c.2230A>G	XP_011522751.1:p.Thr744Ala
XM_011524449.3:c.2230A>G	XP_011522751.1:p.Thr744Ala
XM_011524450.1:c.2230A>G	XP_011522752.1:p.Thr744Ala
XM_011524450.2:c.2230A>G	XP_011522752.1:p.Thr744Ala
XM_011524451.1:c.2188A>G	XP_011522753.1:p.Thr730Ala
XM_011524451.2:c.2188A>G	XP_011522753.1:p.Thr730Ala
XM_011524452.1:c.2059A>G	XP_011522754.1:p.Thr687Ala
XM_011524453.1:c.2059A>G	XP_011522755.1:p.Thr687Ala
XM_011524454.1:c.2059A>G	XP_011522756.1:p.Thr687Ala
XM_011524455.1:c.2017A>G	XP_011522757.1:p.Thr673Ala
XM_011524455.2:c.2017A>G	XP_011522757.1:p.Thr673Ala
XM_017024284.2:c.2188A>G	XP_016879773.1:p.Thr730Ala
XM_017024285.1:c.2059A>G	XP_016879774.1:p.Thr687Ala
XM_017024286.1:c.2017A>G	XP_016879775.1:p.Thr673Ala