Canonical Allele Identifier: CA4025594

Gene: CITED2

Linked Data

• dbSNP Id: rs530916734
• ExAC: 6:139694549 C / G
• gnomAD v2: 6-139694549-C-G
• gnomAD v3: 6-139373412-C-G
• gnomAD v4: 6-139373412-C-G
• COSMIC: COSM6308723
• MyVariant Identifiers: chr6:g.139694549C>G (hg19) ; chr6:g.139373412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373412C>G , CM000668.2:g.139373412C>G	GRCh38
NC_000006.11:g.139694549C>G , CM000668.1:g.139694549C>G	GRCh37
NC_000006.10:g.139736242C>G	NCBI36
NG_016169.1:g.6237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.533G>C MANE Select	ENSP00000356623.2:p.Gly178Ala
ENST00000367651.3:c.533G>C	ENSP00000356623.2:p.Gly178Ala
ENST00000536159.2:c.533G>C	ENSP00000442831.1:p.Gly178Ala
ENST00000537332.2:c.548G>C	ENSP00000444198.2:p.Gly183Ala
ENST00000618718.1:c.476+57G>C	ENSP00000479918.1:n.476+57G>C
NM_001168388.2:c.533G>C	NP_001161860.1:p.Gly178Ala
NM_001168389.2:c.548G>C	NP_001161861.2:p.Gly183Ala
NM_006079.4:c.533G>C	NP_006070.2:p.Gly178Ala
NM_006079.5:c.533G>C MANE Select	NP_006070.2:p.Gly178Ala
NM_001168388.3:c.533G>C	NP_001161860.1:p.Gly178Ala
NM_001168389.3:c.548G>C	NP_001161861.2:p.Gly183Ala