Canonical Allele Identifier: CA4025533

Gene: CITED2

Linked Data

• dbSNP Id: rs745708385
• ExAC: 6:139694421 C / T
• MyVariant Identifiers: chr6:g.139694421C>T (hg19) ; chr6:g.139373284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373284C>T , CM000668.2:g.139373284C>T	GRCh38
NC_000006.11:g.139694421C>T , CM000668.1:g.139694421C>T	GRCh37
NC_000006.10:g.139736114C>T	NCBI36
NG_016169.1:g.6365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.661G>A MANE Select	ENSP00000356623.2:p.Asp221Asn
ENST00000367651.3:c.661G>A	ENSP00000356623.2:p.Asp221Asn
ENST00000536159.2:c.661G>A	ENSP00000442831.1:p.Asp221Asn
ENST00000537332.2:c.676G>A	ENSP00000444198.2:p.Asp226Asn
ENST00000618718.1:c.490G>A	ENSP00000479918.1:p.Asp164Asn
NM_001168388.2:c.661G>A	NP_001161860.1:p.Asp221Asn
NM_001168389.2:c.676G>A	NP_001161861.2:p.Asp226Asn
NM_006079.4:c.661G>A	NP_006070.2:p.Asp221Asn
NM_006079.5:c.661G>A MANE Select	NP_006070.2:p.Asp221Asn
NM_001168388.3:c.661G>A	NP_001161860.1:p.Asp221Asn
NM_001168389.3:c.676G>A	NP_001161861.2:p.Asp226Asn