Canonical Allele Identifier: CA452441461

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373294-G-T
• MyVariant Identifiers: chr6:g.139694431G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373294G>T , CM000668.2:g.139373294G>T	GRCh38
NC_000006.11:g.139694431G>T , CM000668.1:g.139694431G>T	GRCh37
NC_000006.10:g.139736124G>T	NCBI36
NG_016169.1:g.6355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.651C>A MANE Select	ENSP00000356623.2:p.Val217=
ENST00000367651.3:c.651C>A	ENSP00000356623.2:p.Val217=
ENST00000536159.2:c.651C>A	ENSP00000442831.1:p.Val217=
ENST00000537332.2:c.666C>A	ENSP00000444198.2:p.Val222=
ENST00000618718.1:c.480C>A	ENSP00000479918.1:p.Val160=
NM_001168388.2:c.651C>A	NP_001161860.1:p.Val217=
NM_001168389.2:c.666C>A	NP_001161861.2:p.Val222=
NM_006079.4:c.651C>A	NP_006070.2:p.Val217=
NM_006079.5:c.651C>A MANE Select	NP_006070.2:p.Val217=
NM_001168388.3:c.651C>A	NP_001161860.1:p.Val217=
NM_001168389.3:c.666C>A	NP_001161861.2:p.Val222=