Canonical Allele Identifier: CA2864403
Community Standard Title: NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15599544A>G , CM000666.2:g.15599544A>G GRCh38
NC_000004.11:g.15601167A>G , CM000666.1:g.15601167A>G GRCh37
NC_000004.10:g.15210265A>G NCBI36
NG_013035.1:g.134679A>G , LRG_697:g.134679A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.4512A>G MANE Select NP_001365544.1:p.Leu1504=
ENST00000424120.6:c.4512A>G MANE Select ENSP00000403465.1:p.Leu1504=
NM_001080522.2:c.4512A>G , LRG_697t1:c.4512A>G NP_001073991.2:p.Leu1504=
NM_001378617.1:c.4365A>G NP_001365546.1:p.Leu1455=
ENST00000389652.11:c.4548A>G ENSP00000374303.8:p.Leu1516=
ENST00000389652.9:c.4010A>G
ENST00000424120.5:c.4512A>G ENSP00000403465.1:p.Leu1504=
ENST00000503292.5:c.4512A>G ENSP00000421809.1:p.Leu1504=
ENST00000503292.6:c.4512A>G ENSP00000421809.1:p.Leu1504=
ENST00000506643.4:c.2781A>G
ENST00000506643.5:c.4365A>G ENSP00000422931.2:p.Leu1455=
ENST00000514039.5:c.128A>G
ENST00000514039.6:c.618A>G ENSP00000488534.2:p.Leu206=
ENST00000634028.1:c.4318A>G ENSP00000488669.1:n.4318A>G
ENST00000634028.2:c.4306A>G ENSP00000488669.2:n.4306A>G
ENST00000650860.2:c.*2009A>G ENSP00000498775.1:n.*2009A>G
ENST00000674945.1:c.4188A>G ENSP00000502333.1:p.Leu1396=
ENST00000680586.1:n.5171A>G
XM_005248177.1:c.4512A>G XP_005248234.1:p.Leu1504=
XM_011513869.1:c.4530A>G XP_011512171.1:p.Leu1510=
XM_011513870.1:c.4530A>G XP_011512172.1:p.Leu1510=
XM_011513871.1:c.4383A>G XP_011512173.1:p.Leu1461=
XM_017008482.1:c.4365A>G XP_016863971.1:p.Leu1455=