Canonical Allele Identifier: CA2670078478

Gene: CC2D2A

Linked Data

• gnomAD v4: 4-15589495-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589495T>C , CM000666.2:g.15589495T>C	GRCh38
NC_000004.11:g.15591118T>C , CM000666.1:g.15591118T>C	GRCh37
NC_000004.10:g.15200216T>C	NCBI36
NG_013035.1:g.124630T>C , LRG_697:g.124630T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4216-50T>C	ENSP00000374303.8:n.4216-50T>C
ENST00000424120.6:c.4180-50T>C MANE Select	ENSP00000403465.1:n.4180-50T>C
ENST00000503292.6:c.4180-50T>C	ENSP00000421809.1:n.4180-50T>C
ENST00000506643.5:c.4033-50T>C	ENSP00000422931.2:n.4033-50T>C
ENST00000514039.6:c.409-50T>C	ENSP00000488534.2:n.409-50T>C
ENST00000634028.2:c.4033-50T>C	ENSP00000488669.2:n.4033-50T>C
ENST00000650860.2:c.*1677-50T>C	ENSP00000498775.1:n.*1677-50T>C
ENST00000674945.1:c.3856-50T>C	ENSP00000502333.1:n.3856-50T>C
ENST00000675768.1:n.1400-50T>C
ENST00000680586.1:n.4839-50T>C
ENST00000389652.9:c.3678-50T>C
ENST00000424120.5:c.4180-50T>C	ENSP00000403465.1:n.4180-50T>C
ENST00000503292.5:c.4180-50T>C	ENSP00000421809.1:n.4180-50T>C
ENST00000506643.4:c.2508-50T>C
ENST00000634028.1:c.3986-50T>C	ENSP00000488669.1:n.3986-50T>C
NM_001080522.2:c.4180-50T>C , LRG_697t1:c.4180-50T>C	NP_001073991.2:n.4180-50T>C
XM_005248177.1:c.4180-50T>C	XP_005248234.1:n.4180-50T>C
XM_011513869.1:c.4198-50T>C	XP_011512171.1:n.4198-50T>C
XM_011513870.1:c.4198-50T>C	XP_011512172.1:n.4198-50T>C
XM_011513871.1:c.4051-50T>C	XP_011512173.1:n.4051-50T>C
XM_017008482.1:c.4033-50T>C	XP_016863971.1:n.4033-50T>C
NM_001378615.1:c.4180-50T>C MANE Select	NP_001365544.1:n.4180-50T>C
NM_001378617.1:c.4033-50T>C	NP_001365546.1:n.4033-50T>C