Canonical Allele Identifier: CA92511287

Gene: CC2D2A

Linked Data

• dbSNP Id: rs370363875
• gnomAD v3: 4-15558943-TACTATAC-T
• gnomAD v4: 4-15558943-TACTATAC-T
• MyVariant Identifiers: chr4:g.15560567_15560573del (hg19) ; chr4:g.15558944_15558950del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15558945_15558951del , CM000666.2:g.15558945_15558951del	GRCh38
NC_000004.11:g.15560568_15560574del , CM000666.1:g.15560568_15560574del	GRCh37
NC_000004.10:g.15169666_15169672del	NCBI36
NG_013035.1:g.94080_94086del , LRG_697:g.94080_94086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2830-220_2830-214del	ENSP00000374303.8:n.2830-220_2830-214del
ENST00000424120.6:c.2830-220_2830-214del MANE Select	ENSP00000403465.1:n.2830-220_2830-214del
ENST00000503292.6:c.2830-220_2830-214del	ENSP00000421809.1:n.2830-220_2830-214del
ENST00000506643.5:c.2683-220_2683-214del	ENSP00000422931.2:n.2683-220_2683-214del
ENST00000634028.2:c.2683-220_2683-214del	ENSP00000488669.2:n.2683-220_2683-214del
ENST00000650860.2:c.2683-220_2683-214del	ENSP00000498775.1:n.2683-220_2683-214del
ENST00000674945.1:c.2683-220_2683-214del	ENSP00000502333.1:n.2683-220_2683-214del
ENST00000675619.1:n.909-220_909-214del
ENST00000675768.1:n.50-220_50-214del
ENST00000676337.1:c.2683-220_2683-214del	ENSP00000501728.1:n.2683-220_2683-214del
ENST00000680586.1:n.757-220_757-214del
ENST00000389652.9:c.2292-220_2292-214del
ENST00000424120.5:c.2830-220_2830-214del	ENSP00000403465.1:n.2830-220_2830-214del
ENST00000503292.5:c.2830-220_2830-214del	ENSP00000421809.1:n.2830-220_2830-214del
ENST00000506643.4:c.1158-220_1158-214del
ENST00000634028.1:c.2813-220_2813-214del	ENSP00000488669.1:n.2813-220_2813-214del
NM_001080522.2:c.2830-220_2830-214del , LRG_697t1:c.2830-220_2830-214del	NP_001073991.2:n.2830-220_2830-214del
XM_005248177.1:c.2830-220_2830-214del	XP_005248234.1:n.2830-220_2830-214del
XM_011513869.1:c.2830-220_2830-214del	XP_011512171.1:n.2830-220_2830-214del
XM_011513870.1:c.2830-220_2830-214del	XP_011512172.1:n.2830-220_2830-214del
XM_011513871.1:c.2683-220_2683-214del	XP_011512173.1:n.2683-220_2683-214del
XM_011513872.1:c.2830-220_2830-214del	XP_011512174.1:n.2830-220_2830-214del
XM_011513873.1:c.2830-220_2830-214del	XP_011512175.1:n.2830-220_2830-214del
XM_011513872.3:c.2830-220_2830-214del	XP_011512174.1:n.2830-220_2830-214del
XM_017008482.1:c.2683-220_2683-214del	XP_016863971.1:n.2683-220_2683-214del
XR_001741296.1:n.3030-220_3030-214del
NM_001378615.1:c.2830-220_2830-214del MANE Select	NP_001365544.1:n.2830-220_2830-214del
NM_001378617.1:c.2683-220_2683-214del	NP_001365546.1:n.2683-220_2683-214del