Canonical Allele Identifier: CA365876757

Gene: CITED2

Linked Data

• dbSNP Id: rs1246978286
• gnomAD v4: 6-139373402-G-C
• MyVariant Identifiers: chr6:g.139694539G>C (hg19) ; chr6:g.139373402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373402G>C , CM000668.2:g.139373402G>C	GRCh38
NC_000006.11:g.139694539G>C , CM000668.1:g.139694539G>C	GRCh37
NC_000006.10:g.139736232G>C	NCBI36
NG_016169.1:g.6247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.543C>G MANE Select	ENSP00000356623.2:p.Ser181Arg
ENST00000367651.3:c.543C>G	ENSP00000356623.2:p.Ser181Arg
ENST00000536159.2:c.543C>G	ENSP00000442831.1:p.Ser181Arg
ENST00000537332.2:c.558C>G	ENSP00000444198.2:p.Ser186Arg
ENST00000618718.1:c.476+67C>G	ENSP00000479918.1:n.476+67C>G
NM_001168388.2:c.543C>G	NP_001161860.1:p.Ser181Arg
NM_001168389.2:c.558C>G	NP_001161861.2:p.Ser186Arg
NM_006079.4:c.543C>G	NP_006070.2:p.Ser181Arg
NM_006079.5:c.543C>G MANE Select	NP_006070.2:p.Ser181Arg
NM_001168388.3:c.543C>G	NP_001161860.1:p.Ser181Arg
NM_001168389.3:c.558C>G	NP_001161861.2:p.Ser186Arg