Canonical Allele Identifier: CA365876707

Gene: CITED2

Linked Data

• dbSNP Id: rs1165849816
• gnomAD v3: 6-139373377-T-C
• gnomAD v4: 6-139373377-T-C
• MyVariant Identifiers: chr6:g.139694514T>C (hg19) ; chr6:g.139373377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373377T>C , CM000668.2:g.139373377T>C	GRCh38
NC_000006.11:g.139694514T>C , CM000668.1:g.139694514T>C	GRCh37
NC_000006.10:g.139736207T>C	NCBI36
NG_016169.1:g.6272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.568A>G MANE Select	ENSP00000356623.2:p.Ser190Gly
ENST00000367651.3:c.568A>G	ENSP00000356623.2:p.Ser190Gly
ENST00000536159.2:c.568A>G	ENSP00000442831.1:p.Ser190Gly
ENST00000537332.2:c.583A>G	ENSP00000444198.2:p.Ser195Gly
ENST00000618718.1:c.477-80A>G	ENSP00000479918.1:n.477-80A>G
NM_001168388.2:c.568A>G	NP_001161860.1:p.Ser190Gly
NM_001168389.2:c.583A>G	NP_001161861.2:p.Ser195Gly
NM_006079.4:c.568A>G	NP_006070.2:p.Ser190Gly
NM_006079.5:c.568A>G MANE Select	NP_006070.2:p.Ser190Gly
NM_001168388.3:c.568A>G	NP_001161860.1:p.Ser190Gly
NM_001168389.3:c.583A>G	NP_001161861.2:p.Ser195Gly