Canonical Allele Identifier: CA365876504

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373278-T-G
• MyVariant Identifiers: chr6:g.139694415T>G (hg19) ; chr6:g.139373278T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373278T>G , CM000668.2:g.139373278T>G	GRCh38
NC_000006.11:g.139694415T>G , CM000668.1:g.139694415T>G	GRCh37
NC_000006.10:g.139736108T>G	NCBI36
NG_016169.1:g.6371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.667A>C MANE Select	ENSP00000356623.2:p.Ile223Leu
ENST00000367651.3:c.667A>C	ENSP00000356623.2:p.Ile223Leu
ENST00000536159.2:c.667A>C	ENSP00000442831.1:p.Ile223Leu
ENST00000537332.2:c.682A>C	ENSP00000444198.2:p.Ile228Leu
ENST00000618718.1:c.496A>C	ENSP00000479918.1:p.Ile166Leu
NM_001168388.2:c.667A>C	NP_001161860.1:p.Ile223Leu
NM_001168389.2:c.682A>C	NP_001161861.2:p.Ile228Leu
NM_006079.4:c.667A>C	NP_006070.2:p.Ile223Leu
NM_006079.5:c.667A>C MANE Select	NP_006070.2:p.Ile223Leu
NM_001168388.3:c.667A>C	NP_001161860.1:p.Ile223Leu
NM_001168389.3:c.682A>C	NP_001161861.2:p.Ile228Leu