Canonical Allele Identifier: CA365876806

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373428-T-A
• MyVariant Identifiers: chr6:g.139694565T>A (hg19) ; chr6:g.139373428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373428T>A , CM000668.2:g.139373428T>A	GRCh38
NC_000006.11:g.139694565T>A , CM000668.1:g.139694565T>A	GRCh37
NC_000006.10:g.139736258T>A	NCBI36
NG_016169.1:g.6221A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.517A>T MANE Select	ENSP00000356623.2:p.Ser173Cys
ENST00000367651.3:c.517A>T	ENSP00000356623.2:p.Ser173Cys
ENST00000536159.2:c.517A>T	ENSP00000442831.1:p.Ser173Cys
ENST00000537332.2:c.532A>T	ENSP00000444198.2:p.Ser178Cys
ENST00000618718.1:c.476+41A>T	ENSP00000479918.1:n.476+41A>T
NM_001168388.2:c.517A>T	NP_001161860.1:p.Ser173Cys
NM_001168389.2:c.532A>T	NP_001161861.2:p.Ser178Cys
NM_006079.4:c.517A>T	NP_006070.2:p.Ser173Cys
NM_006079.5:c.517A>T MANE Select	NP_006070.2:p.Ser173Cys
NM_001168388.3:c.517A>T	NP_001161860.1:p.Ser173Cys
NM_001168389.3:c.532A>T	NP_001161861.2:p.Ser178Cys