Canonical Allele Identifier: CA819731391

Gene: CITED2

Linked Data

• dbSNP Id: rs1245923941
• gnomAD v3: 6-139372851-G-A
• gnomAD v4: 6-139372851-G-A
• MyVariant Identifiers: chr6:g.139693988G>A (hg19) ; chr6:g.139372851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372851G>A , CM000668.2:g.139372851G>A	GRCh38
NC_000006.11:g.139693988G>A , CM000668.1:g.139693988G>A	GRCh37
NC_000006.10:g.139735681G>A	NCBI36
NG_016169.1:g.6798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*281C>T MANE Select	ENSP00000356623.2:n.*281C>T
ENST00000367651.3:c.*281C>T	ENSP00000356623.2:n.*281C>T
ENST00000536159.2:c.*281C>T	ENSP00000442831.1:n.*281C>T
ENST00000537332.2:c.*281C>T	ENSP00000444198.2:n.*281C>T
NM_001168388.2:c.*281C>T	NP_001161860.1:n.*281C>T
NM_001168389.2:c.*281C>T	NP_001161861.2:n.*281C>T
NM_006079.4:c.*281C>T	NP_006070.2:n.*281C>T
NM_006079.5:c.*281C>T MANE Select	NP_006070.2:n.*281C>T
NM_001168388.3:c.*281C>T	NP_001161860.1:n.*281C>T
NM_001168389.3:c.*281C>T	NP_001161861.2:n.*281C>T