Canonical Allele Identifier: CA1095070796

Gene: CITED2

Linked Data

• gnomAD v3: 6-139373404-T-TGCC
• gnomAD v4: 6-139373404-T-TGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373405_139373407dup , CM000668.2:g.139373405_139373407dup	GRCh38
NC_000006.11:g.139694542_139694544dup , CM000668.1:g.139694542_139694544dup	GRCh37
NC_000006.10:g.139736235_139736237dup	NCBI36
NG_016169.1:g.6242_6244dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.538_540dup MANE Select	ENSP00000356623.2:p.Gly180_Ser181insGly
ENST00000367651.3:c.538_540dup	ENSP00000356623.2:p.Gly180_Ser181insGly
ENST00000536159.2:c.538_540dup	ENSP00000442831.1:p.Gly180_Ser181insGly
ENST00000537332.2:c.553_555dup	ENSP00000444198.2:p.Gly185_Ser186insGly
ENST00000618718.1:c.476+62_476+64dup	ENSP00000479918.1:n.476+62_476+64dup
NM_001168388.2:c.538_540dup	NP_001161860.1:p.Gly180_Ser181insGly
NM_001168389.2:c.553_555dup	NP_001161861.2:p.Gly185_Ser186insGly
NM_006079.4:c.538_540dup	NP_006070.2:p.Gly180_Ser181insGly
NM_006079.5:c.538_540dup MANE Select	NP_006070.2:p.Gly180_Ser181insGly
NM_001168388.3:c.538_540dup	NP_001161860.1:p.Gly180_Ser181insGly
NM_001168389.3:c.553_555dup	NP_001161861.2:p.Gly185_Ser186insGly