Canonical Allele Identifier: CA2863255
Community Standard Title: NM_001378615.1(CC2D2A):c.119A>C (p.Lys40Thr)
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15478802A>C , CM000666.2:g.15478802A>C GRCh38
NC_000004.11:g.15480426A>C , CM000666.1:g.15480426A>C GRCh37
NC_000004.10:g.15089524A>C NCBI36
NG_013035.1:g.13938A>C , LRG_697:g.13938A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378615.1:c.119A>C MANE Select NP_001365544.1:p.Lys40Thr
ENST00000424120.6:c.119A>C MANE Select ENSP00000403465.1:p.Lys40Thr
NM_001080522.2:c.119A>C , LRG_697t1:c.119A>C NP_001073991.2:p.Lys40Thr
NM_001164720.1:c.119A>C NP_001158192.1:p.Lys40Thr
NM_001164720.2:c.119A>C NP_001158192.1:p.Lys40Thr
NM_001164720.3:c.119A>C NP_001158192.1:p.Lys40Thr
NM_020785.2:c.119A>C , LRG_697t2:c.119A>C NP_065836.2:p.Lys40Thr
ENST00000389652.11:c.119A>C ENSP00000374303.8:p.Lys40Thr
ENST00000424120.5:c.119A>C ENSP00000403465.1:p.Lys40Thr
ENST00000438599.6:c.119A>C ENSP00000401154.2:p.Lys40Thr
ENST00000503292.5:c.119A>C ENSP00000421809.1:p.Lys40Thr
ENST00000503292.6:c.119A>C ENSP00000421809.1:p.Lys40Thr
ENST00000503658.2:c.119A>C ENSP00000426846.1:p.Lys40Thr
ENST00000507954.5:c.119A>C ENSP00000427221.1:p.Lys40Thr
ENST00000511544.5:c.119A>C ENSP00000426109.2:p.Lys40Thr
ENST00000511544.6:c.119A>C ENSP00000426109.2:p.Lys40Thr
ENST00000512702.5:c.119A>C ENSP00000422875.1:p.Lys40Thr
ENST00000512702.6:c.119A>C ENSP00000422875.2:p.Lys40Thr
ENST00000513811.5:n.299A>C
ENST00000514450.2:n.274A>C
ENST00000514450.3:c.119A>C ENSP00000502062.1:p.Lys40Thr
ENST00000515124.5:c.119A>C ENSP00000424368.1:p.Lys40Thr
ENST00000515124.6:c.119A>C ENSP00000424368.1:p.Lys40Thr
ENST00000676337.1:c.-29A>C ENSP00000501728.1:n.-29A>C
XM_005248177.1:c.119A>C XP_005248234.1:p.Lys40Thr
XM_011513869.1:c.119A>C XP_011512171.1:p.Lys40Thr
XM_011513870.1:c.119A>C XP_011512172.1:p.Lys40Thr
XM_011513872.1:c.119A>C XP_011512174.1:p.Lys40Thr
XM_011513872.3:c.119A>C XP_011512174.1:p.Lys40Thr
XM_011513873.1:c.119A>C XP_011512175.1:p.Lys40Thr
XM_011513874.1:c.119A>C XP_011512176.1:p.Lys40Thr
XM_011513874.2:c.119A>C XP_011512176.1:p.Lys40Thr
XR_001741296.1:n.319A>C