Canonical Allele Identifier: CA7845255
Gene: AMDHD2 HGNC NCBI
CEMP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2530608C>T , CM000678.2:g.2530608C>T GRCh38
NC_000016.9:g.2580609C>T , CM000678.1:g.2580609C>T GRCh37
NC_000016.8:g.2520610C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000293971.11:c.*1045C>T (AMDHD2) MANE Select ENSP00000293971.6:n.*1045C>T
ENST00000648227.1:c.*1045C>T (AMDHD2) ENSP00000498048.1:n.*1045C>T
ENST00000302956.8:c.*1045C>T (AMDHD2) ENSP00000307481.4:n.*1045C>T
ENST00000413459.7:c.1634C>T (AMDHD2) ENSP00000391596.3:p.Thr545Met
ENST00000565480.1:c.143-260G>A (CEMP1) ENSP00000455479.1:n.143-260G>A
ENST00000565570.1:n.1030C>T (AMDHD2)
ENST00000567119.1:c.466G>A (CEMP1) MANE Select ENSP00000457380.1:p.Val156Ile
NM_001048212.3:c.466G>A (CEMP1) MANE Select NP_001041677.1:p.Val156Ile
NM_001145815.1:c.1634C>T (AMDHD2) NP_001139287.1:p.Thr545Met
XM_017023263.2:c.*1045C>T (AMDHD2) XP_016878752.1:n.*1045C>T
XM_017023264.2:c.*1045C>T (AMDHD2) XP_016878753.1:n.*1045C>T
XM_017023265.2:c.*1045C>T (AMDHD2) XP_016878754.1:n.*1045C>T
XM_017023266.2:c.*1045C>T (AMDHD2) XP_016878755.1:n.*1045C>T
XM_017023267.2:c.*1045C>T (AMDHD2) XP_016878756.1:n.*1045C>T
NM_001145815.2:c.1634C>T (AMDHD2) NP_001139287.1:p.Thr545Met
NM_001330449.2:c.*1045C>T (AMDHD2) MANE Select NP_001317378.1:n.*1045C>T
NM_015944.4:c.*1045C>T (AMDHD2) NP_057028.2:n.*1045C>T