Canonical Allele Identifier: CA570979106

Gene: CITED2

Linked Data

• dbSNP Id: rs1165885705
• gnomAD v2: 6-139694507-CTGTTGCTGCTGCCCG-C
• gnomAD v4: 6-139373370-CTGTTGCTGCTGCCCG-C
• MyVariant Identifiers: chr6:g.139694508_139694522del (hg19) ; chr6:g.139373371_139373385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373371_139373385del , CM000668.2:g.139373371_139373385del	GRCh38
NC_000006.11:g.139694508_139694522del , CM000668.1:g.139694508_139694522del	GRCh37
NC_000006.10:g.139736201_139736215del	NCBI36
NG_016169.1:g.6264_6278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.560_574del MANE Select	ENSP00000356623.2:p.Ala187_Ser192delinsGly
ENST00000367651.3:c.560_574del	ENSP00000356623.2:p.Ala187_Ser192delinsGly
ENST00000536159.2:c.560_574del	ENSP00000442831.1:p.Ala187_Ser192delinsGly
ENST00000537332.2:c.575_589del	ENSP00000444198.2:p.Ala192_Ser197delinsGly
ENST00000618718.1:c.476+84_477-74del	ENSP00000479918.1:n.476+84_477-74del
NM_001168388.2:c.560_574del	NP_001161860.1:p.Ala187_Ser192delinsGly
NM_001168389.2:c.575_589del	NP_001161861.2:p.Ala192_Ser197delinsGly
NM_006079.4:c.560_574del	NP_006070.2:p.Ala187_Ser192delinsGly
NM_006079.5:c.560_574del MANE Select	NP_006070.2:p.Ala187_Ser192delinsGly
NM_001168388.3:c.560_574del	NP_001161860.1:p.Ala187_Ser192delinsGly
NM_001168389.3:c.575_589del	NP_001161861.2:p.Ala192_Ser197delinsGly