Canonical Allele Identifier: CA394389309

Gene: AMDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2528716C>G , CM000678.2:g.2528716C>G	GRCh38
NC_000016.9:g.2578717C>G , CM000678.1:g.2578717C>G	GRCh37
NC_000016.8:g.2518718C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293971.11:c.1037C>G MANE Select	ENSP00000293971.6:p.Thr346Arg
ENST00000648227.1:c.970+157C>G	ENSP00000498048.1:n.970+157C>G
ENST00000293971.10:c.1037C>G	ENSP00000293971.6:p.Thr346Arg
ENST00000302956.8:c.1127C>G	ENSP00000307481.4:p.Thr376Arg
ENST00000413459.7:c.1127C>G	ENSP00000391596.3:p.Thr376Arg
ENST00000561487.1:n.576C>G
ENST00000563145.1:n.271C>G
ENST00000563444.1:n.275C>G
ENST00000563453.1:n.14C>G
ENST00000563633.5:c.*484C>G	ENSP00000457021.1:n.*484C>G
ENST00000565570.1:n.52-914C>G
ENST00000566706.5:c.757+157C>G	ENSP00000456898.1:n.757+157C>G
ENST00000568263.5:c.419C>G	ENSP00000457136.1:p.Thr140Arg
NM_001145815.1:c.1127C>G	NP_001139287.1:p.Thr376Arg
NM_015944.3:c.1127C>G	NP_057028.2:p.Thr376Arg
NM_001330449.1:c.1037C>G	NP_001317378.1:p.Thr346Arg
XM_017023263.2:c.1127C>G	XP_016878752.1:p.Thr376Arg
XM_017023264.2:c.970+157C>G	XP_016878753.1:n.970+157C>G
XM_017023265.2:c.1037C>G	XP_016878754.1:p.Thr346Arg
XM_017023266.2:c.638C>G	XP_016878755.1:p.Thr213Arg
XM_017023267.2:c.419C>G	XP_016878756.1:p.Thr140Arg
NM_001145815.2:c.1127C>G	NP_001139287.1:p.Thr376Arg
NM_001330449.2:c.1037C>G MANE Select	NP_001317378.1:p.Thr346Arg
NM_015944.4:c.1127C>G	NP_057028.2:p.Thr376Arg