Canonical Allele Identifier: CA549894772

Gene: CC2D2A

Linked Data

• gnomAD v2: 4-15560922-AGCCAGCACCC-A
• MyVariant Identifiers: chr4:g.15560923_15560932del (hg19) ; chr4:g.15559300_15559309del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15559300_15559309del , CM000666.2:g.15559300_15559309del	GRCh38
NC_000004.11:g.15560923_15560932del , CM000666.1:g.15560923_15560932del	GRCh37
NC_000004.10:g.15170021_15170030del	NCBI36
NG_013035.1:g.94435_94444del , LRG_697:g.94435_94444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2922+43_2922+52del	ENSP00000374303.8:n.2922+43_2922+52del
ENST00000424120.6:c.2922+43_2922+52del MANE Select	ENSP00000403465.1:n.2922+43_2922+52del
ENST00000503292.6:c.2922+43_2922+52del	ENSP00000421809.1:n.2922+43_2922+52del
ENST00000506643.5:c.2775+43_2775+52del	ENSP00000422931.2:n.2775+43_2775+52del
ENST00000634028.2:c.2775+43_2775+52del	ENSP00000488669.2:n.2775+43_2775+52del
ENST00000650860.2:c.2775+43_2775+52del	ENSP00000498775.1:n.2775+43_2775+52del
ENST00000674945.1:c.2775+43_2775+52del	ENSP00000502333.1:n.2775+43_2775+52del
ENST00000675619.1:n.1001+43_1001+52del
ENST00000675768.1:n.142+43_142+52del
ENST00000676337.1:c.2775+43_2775+52del	ENSP00000501728.1:n.2775+43_2775+52del
ENST00000680586.1:n.849+43_849+52del
ENST00000389652.9:c.2384+43_2384+52del
ENST00000424120.5:c.2922+43_2922+52del	ENSP00000403465.1:n.2922+43_2922+52del
ENST00000503292.5:c.2922+43_2922+52del	ENSP00000421809.1:n.2922+43_2922+52del
ENST00000506643.4:c.1250+43_1250+52del
ENST00000634028.1:c.2905+43_2905+52del	ENSP00000488669.1:n.2905+43_2905+52del
NM_001080522.2:c.2922+43_2922+52del , LRG_697t1:c.2922+43_2922+52del	NP_001073991.2:n.2922+43_2922+52del
XM_005248177.1:c.2922+43_2922+52del	XP_005248234.1:n.2922+43_2922+52del
XM_011513869.1:c.2922+43_2922+52del	XP_011512171.1:n.2922+43_2922+52del
XM_011513870.1:c.2922+43_2922+52del	XP_011512172.1:n.2922+43_2922+52del
XM_011513871.1:c.2775+43_2775+52del	XP_011512173.1:n.2775+43_2775+52del
XM_011513872.1:c.2922+43_2922+52del	XP_011512174.1:n.2922+43_2922+52del
XM_011513873.1:c.2922+43_2922+52del	XP_011512175.1:n.2922+43_2922+52del
XM_011513872.3:c.2922+43_2922+52del	XP_011512174.1:n.2922+43_2922+52del
XM_017008482.1:c.2775+43_2775+52del	XP_016863971.1:n.2775+43_2775+52del
XR_001741296.1:n.3122+43_3122+52del
NM_001378615.1:c.2922+43_2922+52del MANE Select	NP_001365544.1:n.2922+43_2922+52del
NM_001378617.1:c.2775+43_2775+52del	NP_001365546.1:n.2775+43_2775+52del