Canonical Allele Identifier: CA356419339

Gene: CC2D2A

Linked Data

• gnomAD v4: 4-15567758-T-C
• MyVariant Identifiers: chr4:g.15569381T>C (hg19) ; chr4:g.15567758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567758T>C , CM000666.2:g.15567758T>C	GRCh38
NC_000004.11:g.15569381T>C , CM000666.1:g.15569381T>C	GRCh37
NC_000004.10:g.15178479T>C	NCBI36
NG_013035.1:g.102893T>C , LRG_697:g.102893T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.3385T>C	ENSP00000374303.8:p.Trp1129Arg
ENST00000424120.6:c.3370T>C MANE Select	ENSP00000403465.1:p.Trp1124Arg
ENST00000503292.6:c.3370T>C	ENSP00000421809.1:p.Trp1124Arg
ENST00000506643.5:c.3223T>C	ENSP00000422931.2:p.Trp1075Arg
ENST00000634028.2:c.3223T>C	ENSP00000488669.2:p.Trp1075Arg
ENST00000650860.2:c.*376T>C	ENSP00000498775.1:n.*376T>C
ENST00000674945.1:c.3223T>C	ENSP00000502333.1:p.Trp1075Arg
ENST00000675619.1:n.4181T>C
ENST00000675768.1:n.590T>C
ENST00000676337.1:c.*376T>C	ENSP00000501728.1:n.*376T>C
ENST00000680586.1:n.4029T>C
ENST00000389652.9:c.2847T>C
ENST00000424120.5:c.3370T>C	ENSP00000403465.1:p.Trp1124Arg
ENST00000503292.5:c.3370T>C	ENSP00000421809.1:p.Trp1124Arg
ENST00000506643.4:c.1698T>C
ENST00000634028.1:c.3353T>C	ENSP00000488669.1:n.3353T>C
NM_001080522.2:c.3370T>C , LRG_697t1:c.3370T>C	NP_001073991.2:p.Trp1124Arg
XM_005248177.1:c.3370T>C	XP_005248234.1:p.Trp1124Arg
XM_011513869.1:c.3370T>C	XP_011512171.1:p.Trp1124Arg
XM_011513870.1:c.3370T>C	XP_011512172.1:p.Trp1124Arg
XM_011513871.1:c.3223T>C	XP_011512173.1:p.Trp1075Arg
XM_017008482.1:c.3223T>C	XP_016863971.1:p.Trp1075Arg
XR_001741296.1:n.3615T>C
NM_001378615.1:c.3370T>C MANE Select	NP_001365544.1:p.Trp1124Arg
NM_001378617.1:c.3223T>C	NP_001365546.1:p.Trp1075Arg