Canonical Allele Identifier: CA276812898
Gene: AMDHD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2528679C>G , CM000678.2:g.2528679C>G GRCh38
NC_000016.9:g.2578680C>G , CM000678.1:g.2578680C>G GRCh37
NC_000016.8:g.2518681C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000293971.11:c.1000C>G MANE Select ENSP00000293971.6:p.Pro334Ala
ENST00000648227.1:c.970+120C>G ENSP00000498048.1:n.970+120C>G
ENST00000293971.10:c.1000C>G ENSP00000293971.6:p.Pro334Ala
ENST00000302956.8:c.1090C>G ENSP00000307481.4:p.Pro364Ala
ENST00000413459.7:c.1090C>G ENSP00000391596.3:p.Pro364Ala
ENST00000561487.1:n.539C>G
ENST00000563145.1:n.234C>G
ENST00000563444.1:n.238C>G
ENST00000563633.5:c.*447C>G ENSP00000457021.1:n.*447C>G
ENST00000565570.1:n.52-951C>G
ENST00000566706.5:c.757+120C>G ENSP00000456898.1:n.757+120C>G
ENST00000568263.5:c.382C>G ENSP00000457136.1:p.Pro128Ala
ENST00000569879.5:c.877C>G ENSP00000457398.1:p.Pro293Ala
NM_001145815.1:c.1090C>G NP_001139287.1:p.Pro364Ala
NM_015944.3:c.1090C>G NP_057028.2:p.Pro364Ala
NM_001330449.1:c.1000C>G NP_001317378.1:p.Pro334Ala
XM_017023263.2:c.1090C>G XP_016878752.1:p.Pro364Ala
XM_017023264.2:c.970+120C>G XP_016878753.1:n.970+120C>G
XM_017023265.2:c.1000C>G XP_016878754.1:p.Pro334Ala
XM_017023266.2:c.601C>G XP_016878755.1:p.Pro201Ala
XM_017023267.2:c.382C>G XP_016878756.1:p.Pro128Ala
NM_001145815.2:c.1090C>G NP_001139287.1:p.Pro364Ala
NM_001330449.2:c.1000C>G MANE Select NP_001317378.1:p.Pro334Ala
NM_015944.4:c.1090C>G NP_057028.2:p.Pro364Ala