Canonical Allele Identifier: CA2830536218

Gene: ACAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.195297277dup , CM000665.2:g.195297277dup	GRCh38
NC_000003.11:g.195018006dup , CM000665.1:g.195018006dup	GRCh37
NC_000003.10:g.196499295dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450200.2:c.1400dup	ENSP00000412338.2:p.Met467IlefsTer3
ENST00000326793.11:c.1400dup MANE Select	ENSP00000324287.6:p.Met467IlefsTer3
ENST00000326793.10:c.1400dup	ENSP00000324287.6:p.Met467IlefsTer3
ENST00000450200.1:c.75dup
ENST00000475905.5:n.225dup
ENST00000484296.1:n.639dup
ENST00000618471.4:c.1397dup	ENSP00000484209.1:p.Met466IlefsTer3
ENST00000635383.1:c.1421dup	ENSP00000489156.1:p.Met474IlefsTer3
NM_012287.5:c.1400dup	NP_036419.3:p.Met467IlefsTer3
XM_006713557.2:c.1421dup	XP_006713620.1:p.Met474IlefsTer3
XM_011512602.1:c.1421dup	XP_011510904.1:p.Met474IlefsTer3
XM_011512603.1:c.1400dup	XP_011510905.1:p.Met467IlefsTer3
XM_011512604.1:c.1289dup	XP_011510906.1:p.Met430IlefsTer3
XM_011512605.1:c.1289dup	XP_011510907.1:p.Met430IlefsTer3
XM_011512606.1:c.1289dup	XP_011510908.1:p.Met430IlefsTer3
XM_006713557.3:c.1421dup	XP_006713620.1:p.Met474IlefsTer3
XM_011512602.2:c.1421dup	XP_011510904.1:p.Met474IlefsTer3
XM_011512603.2:c.1400dup	XP_011510905.1:p.Met467IlefsTer3
XM_011512604.2:c.1289dup	XP_011510906.1:p.Met430IlefsTer3
XM_011512605.2:c.1289dup	XP_011510907.1:p.Met430IlefsTer3
XM_011512606.2:c.1289dup	XP_011510908.1:p.Met430IlefsTer3
XM_017006046.1:c.1505dup	XP_016861535.1:p.Met502IlefsTer3
XM_017006047.1:c.1484dup	XP_016861536.1:p.Met495IlefsTer3
XM_017006048.1:c.1505dup	XP_016861537.1:p.Met502IlefsTer3
XM_017006049.1:c.1484dup	XP_016861538.1:p.Met495IlefsTer3
NM_012287.6:c.1400dup MANE Select	NP_036419.3:p.Met467IlefsTer3