Canonical Allele Identifier: CA570979108

Gene: CITED2

Linked Data

• dbSNP Id: rs1562314454
• gnomAD v2: 6-139694558-GTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC-G
• gnomAD v4: 6-139373421-GTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC-G
• MyVariant Identifiers: chr6:g.139694559_139694588del (hg19) ; chr6:g.139373422_139373451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373428_139373457del , CM000668.2:g.139373428_139373457del	GRCh38
NC_000006.11:g.139694565_139694594del , CM000668.1:g.139694565_139694594del	GRCh37
NC_000006.10:g.139736258_139736287del	NCBI36
NG_016169.1:g.6198_6227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.494_523del MANE Select	ENSP00000356623.2:p.Ser165_Ser174del
ENST00000367651.3:c.494_523del	ENSP00000356623.2:p.Ser165_Ser174del
ENST00000536159.2:c.494_523del	ENSP00000442831.1:p.Ser165_Ser174del
ENST00000537332.2:c.509_538del	ENSP00000444198.2:p.Ser170_Ser179del
ENST00000618718.1:c.476+18_476+47del	ENSP00000479918.1:n.476+18_476+47del
NM_001168388.2:c.494_523del	NP_001161860.1:p.Ser165_Ser174del
NM_001168389.2:c.509_538del	NP_001161861.2:p.Ser170_Ser179del
NM_006079.4:c.494_523del	NP_006070.2:p.Ser165_Ser174del
NM_006079.5:c.494_523del MANE Select	NP_006070.2:p.Ser165_Ser174del
NM_001168388.3:c.494_523del	NP_001161860.1:p.Ser165_Ser174del
NM_001168389.3:c.509_538del	NP_001161861.2:p.Ser170_Ser179del