Canonical Allele Identifier: CA365876598
Gene: CITED2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373325T>A , CM000668.2:g.139373325T>A GRCh38
NC_000006.11:g.139694462T>A , CM000668.1:g.139694462T>A GRCh37
NC_000006.10:g.139736155T>A NCBI36
NG_016169.1:g.6324A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.620A>T MANE Select ENSP00000356623.2:p.His207Leu
ENST00000367651.3:c.620A>T ENSP00000356623.2:p.His207Leu
ENST00000536159.2:c.620A>T ENSP00000442831.1:p.His207Leu
ENST00000537332.2:c.635A>T ENSP00000444198.2:p.His212Leu
ENST00000618718.1:c.477-28A>T ENSP00000479918.1:n.477-28A>T
NM_001168388.2:c.620A>T NP_001161860.1:p.His207Leu
NM_001168389.2:c.635A>T NP_001161861.2:p.His212Leu
NM_006079.4:c.620A>T NP_006070.2:p.His207Leu
NM_006079.5:c.620A>T MANE Select NP_006070.2:p.His207Leu
NM_001168388.3:c.620A>T NP_001161860.1:p.His207Leu
NM_001168389.3:c.635A>T NP_001161861.2:p.His212Leu