Canonical Allele Identifier: CA438386019

Gene: CC2D2A

Linked Data

• gnomAD v4: 4-15540897-C-T
• MyVariant Identifiers: chr4:g.15542520C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15540897C>T , CM000666.2:g.15540897C>T	GRCh38
NC_000004.11:g.15542520C>T , CM000666.1:g.15542520C>T	GRCh37
NC_000004.10:g.15151618C>T	NCBI36
NG_013035.1:g.76032C>T , LRG_697:g.76032C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.2064C>T	ENSP00000374303.8:p.Phe688=
ENST00000424120.6:c.2064C>T MANE Select	ENSP00000403465.1:p.Phe688=
ENST00000503292.6:c.2064C>T	ENSP00000421809.1:p.Phe688=
ENST00000506643.5:c.1917C>T	ENSP00000422931.2:p.Phe639=
ENST00000634028.2:c.1917C>T	ENSP00000488669.2:p.Phe639=
ENST00000650860.2:c.1917C>T	ENSP00000498775.1:p.Phe639=
ENST00000674945.1:c.1917C>T	ENSP00000502333.1:p.Phe639=
ENST00000675619.1:n.143C>T
ENST00000676337.1:c.1917C>T	ENSP00000501728.1:p.Phe639=
ENST00000389652.9:c.1526C>T
ENST00000424120.5:c.2064C>T	ENSP00000403465.1:p.Phe688=
ENST00000503292.5:c.2064C>T	ENSP00000421809.1:p.Phe688=
ENST00000506643.4:c.392C>T
ENST00000513811.5:n.2244C>T
ENST00000634028.1:c.2047C>T	ENSP00000488669.1:n.2047C>T
NM_001080522.2:c.2064C>T , LRG_697t1:c.2064C>T	NP_001073991.2:p.Phe688=
XM_005248177.1:c.2064C>T	XP_005248234.1:p.Phe688=
XM_011513869.1:c.2064C>T	XP_011512171.1:p.Phe688=
XM_011513870.1:c.2064C>T	XP_011512172.1:p.Phe688=
XM_011513871.1:c.1917C>T	XP_011512173.1:p.Phe639=
XM_011513872.1:c.2064C>T	XP_011512174.1:p.Phe688=
XM_011513873.1:c.2064C>T	XP_011512175.1:p.Phe688=
XM_011513872.3:c.2064C>T	XP_011512174.1:p.Phe688=
XM_017008482.1:c.1917C>T	XP_016863971.1:p.Phe639=
XR_001741296.1:n.2264C>T
NM_001378615.1:c.2064C>T MANE Select	NP_001365544.1:p.Phe688=
NM_001378617.1:c.1917C>T	NP_001365546.1:p.Phe639=