Canonical Allele Identifier: CA290069940

Gene: AP2B1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35690325A>T , CM000679.2:g.35690325A>T	GRCh38
NC_000017.10:g.34017344A>T , CM000679.1:g.34017344A>T	GRCh37
NC_000017.9:g.31041457A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610402.5:c.2454+7501A>T MANE Select	ENSP00000483185.1:n.2454+7501A>T
ENST00000612116.5:c.*423+7501A>T	ENSP00000478115.1:n.*423+7501A>T
ENST00000610402.4:c.2454+7501A>T	ENSP00000483185.1:n.2454+7501A>T
ENST00000616681.4:c.2340+7501A>T	ENSP00000484708.1:n.2340+7501A>T
ENST00000618940.4:c.2454+7501A>T	ENSP00000482835.1:n.2454+7501A>T
ENST00000620039.4:c.*2348+7501A>T	ENSP00000481246.1:n.*2348+7501A>T
ENST00000621914.4:c.2412+7501A>T	ENSP00000482315.1:n.2412+7501A>T
NM_001030006.1:c.2454+7501A>T	NP_001025177.1:n.2454+7501A>T
NM_001282.2:c.2412+7501A>T	NP_001273.1:n.2412+7501A>T
XM_005257937.2:c.2454+7501A>T	XP_005257994.1:n.2454+7501A>T
XM_005257938.1:c.2454+7501A>T	XP_005257995.1:n.2454+7501A>T
XM_011524448.1:c.2454+7501A>T	XP_011522750.1:n.2454+7501A>T
XM_011524449.1:c.2454+7501A>T	XP_011522751.1:n.2454+7501A>T
XM_011524450.1:c.2454+7501A>T	XP_011522752.1:n.2454+7501A>T
XM_011524451.1:c.2412+7501A>T	XP_011522753.1:n.2412+7501A>T
XM_011524452.1:c.2283+7501A>T	XP_011522754.1:n.2283+7501A>T
XM_011524453.1:c.2283+7501A>T	XP_011522755.1:n.2283+7501A>T
XM_011524454.1:c.2283+7501A>T	XP_011522756.1:n.2283+7501A>T
XM_011524455.1:c.2241+7501A>T	XP_011522757.1:n.2241+7501A>T
XM_005257937.4:c.2454+7501A>T	XP_005257994.1:n.2454+7501A>T
XM_005257938.3:c.2454+7501A>T	XP_005257995.1:n.2454+7501A>T
XM_011524448.2:c.2454+7501A>T	XP_011522750.1:n.2454+7501A>T
XM_011524449.3:c.2454+7501A>T	XP_011522751.1:n.2454+7501A>T
XM_011524450.2:c.2454+7501A>T	XP_011522752.1:n.2454+7501A>T
XM_011524451.2:c.2412+7501A>T	XP_011522753.1:n.2412+7501A>T
XM_011524455.2:c.2241+7501A>T	XP_011522757.1:n.2241+7501A>T
XM_017024284.2:c.2412+7501A>T	XP_016879773.1:n.2412+7501A>T
XM_017024285.1:c.2283+7501A>T	XP_016879774.1:n.2283+7501A>T
XM_017024286.1:c.2241+7501A>T	XP_016879775.1:n.2241+7501A>T
NM_001030006.2:c.2454+7501A>T MANE Select	NP_001025177.1:n.2454+7501A>T
NM_001282.3:c.2412+7501A>T	NP_001273.1:n.2412+7501A>T