Canonical Allele Identifier: CA4025595

Gene: CITED2

Linked Data

• dbSNP Id: rs747817964
• ExAC: 6:139694550 C / T
• gnomAD v2: 6-139694550-C-T
• gnomAD v4: 6-139373413-C-T
• MyVariant Identifiers: chr6:g.139694550C>T (hg19) ; chr6:g.139373413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373413C>T , CM000668.2:g.139373413C>T	GRCh38
NC_000006.11:g.139694550C>T , CM000668.1:g.139694550C>T	GRCh37
NC_000006.10:g.139736243C>T	NCBI36
NG_016169.1:g.6236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.532G>A MANE Select	ENSP00000356623.2:p.Gly178Ser
ENST00000367651.3:c.532G>A	ENSP00000356623.2:p.Gly178Ser
ENST00000536159.2:c.532G>A	ENSP00000442831.1:p.Gly178Ser
ENST00000537332.2:c.547G>A	ENSP00000444198.2:p.Gly183Ser
ENST00000618718.1:c.476+56G>A	ENSP00000479918.1:n.476+56G>A
NM_001168388.2:c.532G>A	NP_001161860.1:p.Gly178Ser
NM_001168389.2:c.547G>A	NP_001161861.2:p.Gly183Ser
NM_006079.4:c.532G>A	NP_006070.2:p.Gly178Ser
NM_006079.5:c.532G>A MANE Select	NP_006070.2:p.Gly178Ser
NM_001168388.3:c.532G>A	NP_001161860.1:p.Gly178Ser
NM_001168389.3:c.547G>A	NP_001161861.2:p.Gly183Ser