Canonical Allele Identifier: CA2838543400

Gene: AMDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2528371dup , CM000678.2:g.2528371dup	GRCh38
NC_000016.9:g.2578372dup , CM000678.1:g.2578372dup	GRCh37
NC_000016.8:g.2518373dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293971.11:c.853dup MANE Select	ENSP00000293971.6:p.His285ProfsTer?
ENST00000648227.1:c.853dup	ENSP00000498048.1:p.His285ProfsTer?
ENST00000293971.10:c.853dup	ENSP00000293971.6:p.His285ProfsTer?
ENST00000302956.8:c.853dup	ENSP00000307481.4:p.His285ProfsTer?
ENST00000413459.7:c.853dup	ENSP00000391596.3:p.His285ProfsTer?
ENST00000561487.1:n.302dup
ENST00000563444.1:n.20dup
ENST00000563633.5:c.*300dup	ENSP00000457021.1:n.*300dup
ENST00000565570.1:n.51+1241dup
ENST00000566706.5:c.640dup	ENSP00000456898.1:p.His214ProfsTer?
ENST00000566947.5:n.406dup
ENST00000568263.5:c.145dup	ENSP00000457136.1:p.His49ProfsTer?
ENST00000569879.5:c.640dup	ENSP00000457398.1:p.His214ProfsTer?
ENST00000570028.5:n.641dup
NM_001145815.1:c.853dup	NP_001139287.1:p.His285ProfsTer?
NM_015944.3:c.853dup	NP_057028.2:p.His285ProfsTer?
NM_001330449.1:c.853dup	NP_001317378.1:p.His285ProfsTer?
XM_017023263.2:c.853dup	XP_016878752.1:p.His285ProfsTer?
XM_017023264.2:c.853dup	XP_016878753.1:p.His285ProfsTer?
XM_017023265.2:c.853dup	XP_016878754.1:p.His285ProfsTer?
XM_017023266.2:c.364dup	XP_016878755.1:p.His122ProfsTer?
XM_017023267.2:c.145dup	XP_016878756.1:p.His49ProfsTer?
NM_001145815.2:c.853dup	NP_001139287.1:p.His285ProfsTer?
NM_001330449.2:c.853dup MANE Select	NP_001317378.1:p.His285ProfsTer?
NM_015944.4:c.853dup	NP_057028.2:p.His285ProfsTer?