Canonical Allele Identifier: CA365876743

Gene: CITED2

Linked Data

• dbSNP Id: rs1274837493
• gnomAD v3: 6-139373397-G-A
• gnomAD v4: 6-139373397-G-A
• MyVariant Identifiers: chr6:g.139694534G>A (hg19) ; chr6:g.139373397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373397G>A , CM000668.2:g.139373397G>A	GRCh38
NC_000006.11:g.139694534G>A , CM000668.1:g.139694534G>A	GRCh37
NC_000006.10:g.139736227G>A	NCBI36
NG_016169.1:g.6252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.548C>T MANE Select	ENSP00000356623.2:p.Ser183Leu
ENST00000367651.3:c.548C>T	ENSP00000356623.2:p.Ser183Leu
ENST00000536159.2:c.548C>T	ENSP00000442831.1:p.Ser183Leu
ENST00000537332.2:c.563C>T	ENSP00000444198.2:p.Ser188Leu
ENST00000618718.1:c.476+72C>T	ENSP00000479918.1:n.476+72C>T
NM_001168388.2:c.548C>T	NP_001161860.1:p.Ser183Leu
NM_001168389.2:c.563C>T	NP_001161861.2:p.Ser188Leu
NM_006079.4:c.548C>T	NP_006070.2:p.Ser183Leu
NM_006079.5:c.548C>T MANE Select	NP_006070.2:p.Ser183Leu
NM_001168388.3:c.548C>T	NP_001161860.1:p.Ser183Leu
NM_001168389.3:c.563C>T	NP_001161861.2:p.Ser188Leu