Canonical Allele Identifier: CA365876760

Gene: CITED2

Linked Data

• MyVariant Identifiers: chr6:g.139694540C>T (hg19) ; chr6:g.139373403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373403C>T , CM000668.2:g.139373403C>T	GRCh38
NC_000006.11:g.139694540C>T , CM000668.1:g.139694540C>T	GRCh37
NC_000006.10:g.139736233C>T	NCBI36
NG_016169.1:g.6246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.542G>A MANE Select	ENSP00000356623.2:p.Ser181Asn
ENST00000367651.3:c.542G>A	ENSP00000356623.2:p.Ser181Asn
ENST00000536159.2:c.542G>A	ENSP00000442831.1:p.Ser181Asn
ENST00000537332.2:c.557G>A	ENSP00000444198.2:p.Ser186Asn
ENST00000618718.1:c.476+66G>A	ENSP00000479918.1:n.476+66G>A
NM_001168388.2:c.542G>A	NP_001161860.1:p.Ser181Asn
NM_001168389.2:c.557G>A	NP_001161861.2:p.Ser186Asn
NM_006079.4:c.542G>A	NP_006070.2:p.Ser181Asn
NM_006079.5:c.542G>A MANE Select	NP_006070.2:p.Ser181Asn
NM_001168388.3:c.542G>A	NP_001161860.1:p.Ser181Asn
NM_001168389.3:c.557G>A	NP_001161861.2:p.Ser186Asn