Canonical Allele Identifier: CA365876726

Gene: CITED2

Linked Data

• gnomAD v3: 6-139373386-C-T
• gnomAD v4: 6-139373386-C-T
• MyVariant Identifiers: chr6:g.139694523C>T (hg19) ; chr6:g.139373386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373386C>T , CM000668.2:g.139373386C>T	GRCh38
NC_000006.11:g.139694523C>T , CM000668.1:g.139694523C>T	GRCh37
NC_000006.10:g.139736216C>T	NCBI36
NG_016169.1:g.6263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.559G>A MANE Select	ENSP00000356623.2:p.Ala187Thr
ENST00000367651.3:c.559G>A	ENSP00000356623.2:p.Ala187Thr
ENST00000536159.2:c.559G>A	ENSP00000442831.1:p.Ala187Thr
ENST00000537332.2:c.574G>A	ENSP00000444198.2:p.Ala192Thr
ENST00000618718.1:c.476+83G>A	ENSP00000479918.1:n.476+83G>A
NM_001168388.2:c.559G>A	NP_001161860.1:p.Ala187Thr
NM_001168389.2:c.574G>A	NP_001161861.2:p.Ala192Thr
NM_006079.4:c.559G>A	NP_006070.2:p.Ala187Thr
NM_006079.5:c.559G>A MANE Select	NP_006070.2:p.Ala187Thr
NM_001168388.3:c.559G>A	NP_001161860.1:p.Ala187Thr
NM_001168389.3:c.574G>A	NP_001161861.2:p.Ala192Thr