Canonical Allele Identifier: CA365876845

Gene: CITED2

Linked Data

• ClinVar Variation Id: 3145172
• ClinVar RCV Id: RCV004444013
• MyVariant Identifiers: chr6:g.139694587G>T (hg19) ; chr6:g.139373450G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373450G>T , CM000668.2:g.139373450G>T	GRCh38
NC_000006.11:g.139694587G>T , CM000668.1:g.139694587G>T	GRCh37
NC_000006.10:g.139736280G>T	NCBI36
NG_016169.1:g.6199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.495C>A MANE Select	ENSP00000356623.2:p.Ser165Arg
ENST00000367651.3:c.495C>A	ENSP00000356623.2:p.Ser165Arg
ENST00000536159.2:c.495C>A	ENSP00000442831.1:p.Ser165Arg
ENST00000537332.2:c.510C>A	ENSP00000444198.2:p.Ser170Arg
ENST00000618718.1:c.476+19C>A	ENSP00000479918.1:n.476+19C>A
NM_001168388.2:c.495C>A	NP_001161860.1:p.Ser165Arg
NM_001168389.2:c.510C>A	NP_001161861.2:p.Ser170Arg
NM_006079.4:c.495C>A	NP_006070.2:p.Ser165Arg
NM_006079.5:c.495C>A MANE Select	NP_006070.2:p.Ser165Arg
NM_001168388.3:c.495C>A	NP_001161860.1:p.Ser165Arg
NM_001168389.3:c.510C>A	NP_001161861.2:p.Ser170Arg