Canonical Allele Identifier: CA365876319

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373222-C-G
• MyVariant Identifiers: chr6:g.139694359C>G (hg19) ; chr6:g.139373222C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373222C>G , CM000668.2:g.139373222C>G	GRCh38
NC_000006.11:g.139694359C>G , CM000668.1:g.139694359C>G	GRCh37
NC_000006.10:g.139736052C>G	NCBI36
NG_016169.1:g.6427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.723G>C MANE Select	ENSP00000356623.2:p.Lys241Asn
ENST00000367651.3:c.723G>C	ENSP00000356623.2:p.Lys241Asn
ENST00000536159.2:c.723G>C	ENSP00000442831.1:p.Lys241Asn
ENST00000537332.2:c.738G>C	ENSP00000444198.2:p.Lys246Asn
ENST00000618718.1:c.552G>C	ENSP00000479918.1:p.Lys184Asn
NM_001168388.2:c.723G>C	NP_001161860.1:p.Lys241Asn
NM_001168389.2:c.738G>C	NP_001161861.2:p.Lys246Asn
NM_006079.4:c.723G>C	NP_006070.2:p.Lys241Asn
NM_006079.5:c.723G>C MANE Select	NP_006070.2:p.Lys241Asn
NM_001168388.3:c.723G>C	NP_001161860.1:p.Lys241Asn
NM_001168389.3:c.738G>C	NP_001161861.2:p.Lys246Asn