Canonical Allele Identifier: CA148813762

Gene: CITED2

Linked Data

• dbSNP Id: rs1037068771
• gnomAD v4: 6-139372980-C-G
• MyVariant Identifiers: chr6:g.139694117C>G (hg19) ; chr6:g.139372980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372980C>G , CM000668.2:g.139372980C>G	GRCh38
NC_000006.11:g.139694117C>G , CM000668.1:g.139694117C>G	GRCh37
NC_000006.10:g.139735810C>G	NCBI36
NG_016169.1:g.6669G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*152G>C MANE Select	ENSP00000356623.2:n.*152G>C
ENST00000367651.3:c.*152G>C	ENSP00000356623.2:n.*152G>C
ENST00000536159.2:c.*152G>C	ENSP00000442831.1:n.*152G>C
ENST00000537332.2:c.*152G>C	ENSP00000444198.2:n.*152G>C
NM_001168388.2:c.*152G>C	NP_001161860.1:n.*152G>C
NM_001168389.2:c.*152G>C	NP_001161861.2:n.*152G>C
NM_006079.4:c.*152G>C	NP_006070.2:n.*152G>C
NM_006079.5:c.*152G>C MANE Select	NP_006070.2:n.*152G>C
NM_001168388.3:c.*152G>C	NP_001161860.1:n.*152G>C
NM_001168389.3:c.*152G>C	NP_001161861.2:n.*152G>C