Canonical Allele Identifier: CA365876702

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373375-G-T
• MyVariant Identifiers: chr6:g.139694512G>T (hg19) ; chr6:g.139373375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373375G>T , CM000668.2:g.139373375G>T	GRCh38
NC_000006.11:g.139694512G>T , CM000668.1:g.139694512G>T	GRCh37
NC_000006.10:g.139736205G>T	NCBI36
NG_016169.1:g.6274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.570C>A MANE Select	ENSP00000356623.2:p.Ser190Arg
ENST00000367651.3:c.570C>A	ENSP00000356623.2:p.Ser190Arg
ENST00000536159.2:c.570C>A	ENSP00000442831.1:p.Ser190Arg
ENST00000537332.2:c.585C>A	ENSP00000444198.2:p.Ser195Arg
ENST00000618718.1:c.477-78C>A	ENSP00000479918.1:n.477-78C>A
NM_001168388.2:c.570C>A	NP_001161860.1:p.Ser190Arg
NM_001168389.2:c.585C>A	NP_001161861.2:p.Ser195Arg
NM_006079.4:c.570C>A	NP_006070.2:p.Ser190Arg
NM_006079.5:c.570C>A MANE Select	NP_006070.2:p.Ser190Arg
NM_001168388.3:c.570C>A	NP_001161860.1:p.Ser190Arg
NM_001168389.3:c.585C>A	NP_001161861.2:p.Ser195Arg