Canonical Allele Identifier: CA438390588
Community Standard Title: NM_001378615.1(CC2D2A):c.3924C>T (p.Asn1308=)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15580120C>T , CM000666.2:g.15580120C>T GRCh38
NC_000004.11:g.15581743C>T , CM000666.1:g.15581743C>T GRCh37
NC_000004.10:g.15190841C>T NCBI36
NG_013035.1:g.115255C>T , LRG_697:g.115255C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.3924C>T MANE Select NP_001365544.1:p.Asn1308=
ENST00000424120.6:c.3924C>T MANE Select ENSP00000403465.1:p.Asn1308=
NM_001080522.2:c.3924C>T , LRG_697t1:c.3924C>T NP_001073991.2:p.Asn1308=
NM_001378617.1:c.3777C>T NP_001365546.1:p.Asn1259=
ENST00000389652.11:c.3960C>T ENSP00000374303.8:p.Asn1320=
ENST00000389652.9:c.3422C>T
ENST00000424120.5:c.3924C>T ENSP00000403465.1:p.Asn1308=
ENST00000503292.5:c.3924C>T ENSP00000421809.1:p.Asn1308=
ENST00000503292.6:c.3924C>T ENSP00000421809.1:p.Asn1308=
ENST00000506643.4:c.2252C>T
ENST00000506643.5:c.3777C>T ENSP00000422931.2:p.Asn1259=
ENST00000514039.6:c.153C>T ENSP00000488534.2:p.Asn51=
ENST00000634028.1:c.3730C>T ENSP00000488669.1:n.3730C>T
ENST00000634028.2:c.3777C>T ENSP00000488669.2:p.Asn1259=
ENST00000650860.2:c.*1421C>T ENSP00000498775.1:n.*1421C>T
ENST00000674945.1:c.3600C>T ENSP00000502333.1:p.Asn1200=
ENST00000675619.1:n.4756C>T
ENST00000675768.1:n.1144C>T
ENST00000676337.1:c.*930C>T ENSP00000501728.1:n.*930C>T
ENST00000680586.1:n.4583C>T
XM_005248177.1:c.3924C>T XP_005248234.1:p.Asn1308=
XM_011513869.1:c.3924C>T XP_011512171.1:p.Asn1308=
XM_011513870.1:c.3924C>T XP_011512172.1:p.Asn1308=
XM_011513871.1:c.3777C>T XP_011512173.1:p.Asn1259=
XM_017008482.1:c.3777C>T XP_016863971.1:p.Asn1259=
XR_001741296.1:n.4169C>T