Canonical Allele Identifier: CA2580598011

Gene: ABCA2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001606.5:c.2037T= MANE Select	NP_001597.2:p.Asp679=
ENST00000341511.11:c.2037T= MANE Select	ENSP00000344155.6:p.Asp679=
NM_001606.4:c.2037T=	NP_001597.2:p.Asp679=
NM_212533.2:c.2127T=	NP_997698.1:p.Asp709=
NM_212533.3:c.2127T=	NP_997698.1:p.Asp709=
ENST00000265662.9:c.2037T=	ENSP00000265662.5:p.Asp679=
ENST00000341511.10:c.2037T=	ENSP00000344155.6:p.Asp679=
ENST00000371605.7:c.2034T=	ENSP00000360666.3:p.Asp678=
ENST00000459850.5:n.2167T=
ENST00000466707.1:n.85T=
ENST00000479446.5:c.86T=
ENST00000487109.5:c.2124T=	ENSP00000418662.1:p.Asp708=
ENST00000488535.2:c.78T=	ENSP00000419850.1:p.Asp26=
ENST00000614293.4:c.2127T=	ENSP00000481105.1:p.Asp709=
ENST00000614293.5:c.2127T=	ENSP00000481105.2:p.Asp709=
XM_006716996.2:c.2034T=	XP_006717059.1:p.Asp678=
XM_006716996.4:c.2034T=	XP_006717059.1:p.Asp678=
XM_011518346.1:c.2124T=	XP_011516648.1:p.Asp708=
XR_001746224.1:n.2161T=