Canonical Allele Identifier: CA7844792

Gene: AMDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2527826G>A , CM000678.2:g.2527826G>A	GRCh38
NC_000016.9:g.2577827G>A , CM000678.1:g.2577827G>A	GRCh37
NC_000016.8:g.2517828G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293971.11:c.469G>A MANE Select	ENSP00000293971.6:p.Glu157Lys
ENST00000648227.1:c.469G>A	ENSP00000498048.1:p.Glu157Lys
ENST00000293971.10:c.469G>A	ENSP00000293971.6:p.Glu157Lys
ENST00000302956.8:c.469G>A	ENSP00000307481.4:p.Glu157Lys
ENST00000413459.7:c.469G>A	ENSP00000391596.3:p.Glu157Lys
ENST00000563556.1:c.457G>A	ENSP00000456656.1:p.Glu153Lys
ENST00000563633.5:c.414G>A	ENSP00000457021.1:p.Pro138=
ENST00000565570.1:n.51+696G>A
ENST00000565963.5:n.616G>A
ENST00000566706.5:c.415+211G>A	ENSP00000456898.1:n.415+211G>A
ENST00000567475.5:n.527G>A
ENST00000568263.5:c.-240G>A	ENSP00000457136.1:n.-240G>A
ENST00000569219.1:n.682G>A
ENST00000569317.1:c.328G>A	ENSP00000455561.1:p.Glu110Lys
ENST00000569879.5:c.415+211G>A	ENSP00000457398.1:n.415+211G>A
ENST00000570028.5:n.257G>A
NM_001145815.1:c.469G>A	NP_001139287.1:p.Glu157Lys
NM_015944.3:c.469G>A	NP_057028.2:p.Glu157Lys
NM_001330449.1:c.469G>A	NP_001317378.1:p.Glu157Lys
XM_017023263.2:c.469G>A	XP_016878752.1:p.Glu157Lys
XM_017023264.2:c.469G>A	XP_016878753.1:p.Glu157Lys
XM_017023265.2:c.469G>A	XP_016878754.1:p.Glu157Lys
XM_017023266.2:c.19-39G>A	XP_016878755.1:n.19-39G>A
XM_017023267.2:c.-240G>A	XP_016878756.1:n.-240G>A
NM_001145815.2:c.469G>A	NP_001139287.1:p.Glu157Lys
NM_001330449.2:c.469G>A MANE Select	NP_001317378.1:p.Glu157Lys
NM_015944.4:c.469G>A	NP_057028.2:p.Glu157Lys