Canonical Allele Identifier: CA2864467
Community Standard Title: NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15601290C>T , CM000666.2:g.15601290C>T GRCh38
NC_000004.11:g.15602913C>T , CM000666.1:g.15602913C>T GRCh37
NC_000004.10:g.15212011C>T NCBI36
NG_013035.1:g.136425C>T , LRG_697:g.136425C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.4728C>T MANE Select NP_001365544.1:p.Asp1576=
ENST00000424120.6:c.4728C>T MANE Select ENSP00000403465.1:p.Asp1576=
NM_001080522.2:c.4728C>T , LRG_697t1:c.4728C>T NP_001073991.2:p.Asp1576=
NM_001378617.1:c.4581C>T NP_001365546.1:p.Asp1527=
ENST00000389652.11:c.4764C>T ENSP00000374303.8:p.Asp1588=
ENST00000389652.9:c.4226C>T
ENST00000424120.5:c.4728C>T ENSP00000403465.1:p.Asp1576=
ENST00000503292.5:c.4728C>T ENSP00000421809.1:p.Asp1576=
ENST00000503292.6:c.4728C>T ENSP00000421809.1:p.Asp1576=
ENST00000506643.4:c.2997C>T
ENST00000506643.5:c.4581C>T ENSP00000422931.2:p.Asp1527=
ENST00000514039.5:c.344C>T
ENST00000514039.6:c.834C>T ENSP00000488534.2:p.Asp278=
ENST00000634028.1:c.4534C>T ENSP00000488669.1:n.4534C>T
ENST00000634028.2:c.4522C>T ENSP00000488669.2:n.4522C>T
ENST00000650860.2:c.*2225C>T ENSP00000498775.1:n.*2225C>T
ENST00000674945.1:c.4404C>T ENSP00000502333.1:p.Asp1468=
XM_005248177.1:c.4728C>T XP_005248234.1:p.Asp1576=
XM_011513869.1:c.4746C>T XP_011512171.1:p.Asp1582=
XM_011513870.1:c.4746C>T XP_011512172.1:p.Asp1582=
XM_011513871.1:c.4599C>T XP_011512173.1:p.Asp1533=
XM_017008482.1:c.4581C>T XP_016863971.1:p.Asp1527=