Canonical Allele Identifier: CA375674319

Gene: ABCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137018032A>T , CM000671.2:g.137018032A>T	GRCh38
NC_000009.11:g.139912484A>T , CM000671.1:g.139912484A>T	GRCh37
NC_000009.10:g.139032305A>T	NCBI36
NG_011789.1:g.15891T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001606.5:c.2037T>A MANE Select	NP_001597.2:p.Asp679Glu
ENST00000341511.11:c.2037T>A MANE Select	ENSP00000344155.6:p.Asp679Glu
NM_001606.4:c.2037T>A	NP_001597.2:p.Asp679Glu
NM_212533.2:c.2127T>A	NP_997698.1:p.Asp709Glu
NM_212533.3:c.2127T>A	NP_997698.1:p.Asp709Glu
ENST00000265662.9:c.2037T>A	ENSP00000265662.5:p.Asp679Glu
ENST00000341511.10:c.2037T>A	ENSP00000344155.6:p.Asp679Glu
ENST00000371605.7:c.2034T>A	ENSP00000360666.3:p.Asp678Glu
ENST00000459850.5:n.2167T>A
ENST00000466707.1:n.85T>A
ENST00000479446.5:c.86T>A
ENST00000487109.5:c.2124T>A	ENSP00000418662.1:p.Asp708Glu
ENST00000488535.2:c.78T>A	ENSP00000419850.1:p.Asp26Glu
ENST00000614293.4:c.2127T>A	ENSP00000481105.1:p.Asp709Glu
ENST00000614293.5:c.2127T>A	ENSP00000481105.2:p.Asp709Glu
XM_006716996.2:c.2034T>A	XP_006717059.1:p.Asp678Glu
XM_006716996.4:c.2034T>A	XP_006717059.1:p.Asp678Glu
XM_011518346.1:c.2124T>A	XP_011516648.1:p.Asp708Glu
XR_001746224.1:n.2161T>A