Canonical Allele Identifier: CA365876713

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373379-C-T
• MyVariant Identifiers: chr6:g.139694516C>T (hg19) ; chr6:g.139373379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373379C>T , CM000668.2:g.139373379C>T	GRCh38
NC_000006.11:g.139694516C>T , CM000668.1:g.139694516C>T	GRCh37
NC_000006.10:g.139736209C>T	NCBI36
NG_016169.1:g.6270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.566G>A MANE Select	ENSP00000356623.2:p.Ser189Asn
ENST00000367651.3:c.566G>A	ENSP00000356623.2:p.Ser189Asn
ENST00000536159.2:c.566G>A	ENSP00000442831.1:p.Ser189Asn
ENST00000537332.2:c.581G>A	ENSP00000444198.2:p.Ser194Asn
ENST00000618718.1:c.477-82G>A	ENSP00000479918.1:n.477-82G>A
NM_001168388.2:c.566G>A	NP_001161860.1:p.Ser189Asn
NM_001168389.2:c.581G>A	NP_001161861.2:p.Ser194Asn
NM_006079.4:c.566G>A	NP_006070.2:p.Ser189Asn
NM_006079.5:c.566G>A MANE Select	NP_006070.2:p.Ser189Asn
NM_001168388.3:c.566G>A	NP_001161860.1:p.Ser189Asn
NM_001168389.3:c.581G>A	NP_001161861.2:p.Ser194Asn