Canonical Allele Identifier: CA1059646723

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1716461287
• gnomAD v3: 4-15509864-GGTAA-G
• gnomAD v4: 4-15509864-GGTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15509868_15509871del , CM000666.2:g.15509868_15509871del	GRCh38
NC_000004.11:g.15511491_15511494del , CM000666.1:g.15511491_15511494del	GRCh37
NC_000004.10:g.15120589_15120592del	NCBI36
NG_013035.1:g.45003_45006del , LRG_697:g.45003_45006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.439-271_439-268del	ENSP00000374303.8:n.439-271_439-268del
ENST00000424120.6:c.439-271_439-268del MANE Select	ENSP00000403465.1:n.439-271_439-268del
ENST00000503292.6:c.439-271_439-268del	ENSP00000421809.1:n.439-271_439-268del
ENST00000506643.5:c.292-271_292-268del	ENSP00000422931.2:n.292-271_292-268del
ENST00000512702.6:c.439-271_439-268del	ENSP00000422875.2:n.439-271_439-268del
ENST00000514450.3:c.439-271_439-268del	ENSP00000502062.1:n.439-271_439-268del
ENST00000634028.2:c.292-271_292-268del	ENSP00000488669.2:n.292-271_292-268del
ENST00000650860.2:c.292-271_292-268del	ENSP00000498775.1:n.292-271_292-268del
ENST00000651385.1:c.292-271_292-268del	ENSP00000499005.1:n.292-271_292-268del
ENST00000674945.1:c.292-271_292-268del	ENSP00000502333.1:n.292-271_292-268del
ENST00000676337.1:c.292-271_292-268del	ENSP00000501728.1:n.292-271_292-268del
ENST00000424120.5:c.439-271_439-268del	ENSP00000403465.1:n.439-271_439-268del
ENST00000503292.5:c.439-271_439-268del	ENSP00000421809.1:n.439-271_439-268del
ENST00000512702.5:c.439-271_439-268del	ENSP00000422875.1:n.439-271_439-268del
ENST00000513811.5:n.619-271_619-268del
ENST00000514450.2:n.594-271_594-268del
ENST00000634028.1:c.422-271_422-268del	ENSP00000488669.1:n.422-271_422-268del
NM_001080522.2:c.439-271_439-268del , LRG_697t1:c.439-271_439-268del	NP_001073991.2:n.439-271_439-268del
XM_005248177.1:c.439-271_439-268del	XP_005248234.1:n.439-271_439-268del
XM_011513869.1:c.439-271_439-268del	XP_011512171.1:n.439-271_439-268del
XM_011513870.1:c.439-271_439-268del	XP_011512172.1:n.439-271_439-268del
XM_011513871.1:c.292-271_292-268del	XP_011512173.1:n.292-271_292-268del
XM_011513872.1:c.439-271_439-268del	XP_011512174.1:n.439-271_439-268del
XM_011513873.1:c.439-271_439-268del	XP_011512175.1:n.439-271_439-268del
XM_011513872.3:c.439-271_439-268del	XP_011512174.1:n.439-271_439-268del
XM_017008482.1:c.292-271_292-268del	XP_016863971.1:n.292-271_292-268del
XR_001741296.1:n.639-271_639-268del
NM_001378615.1:c.439-271_439-268del MANE Select	NP_001365544.1:n.439-271_439-268del
NM_001378617.1:c.292-271_292-268del	NP_001365546.1:n.292-271_292-268del