Canonical Allele Identifier: CA365876457

Gene: CITED2

Linked Data

• ClinVar Variation Id: 2308259
• ClinVar RCV Id: RCV002874914
• dbSNP Id: rs1327285914
• gnomAD v2: 6-139694396-A-G
• gnomAD v3: 6-139373259-A-G
• gnomAD v4: 6-139373259-A-G
• MyVariant Identifiers: chr6:g.139694396A>G (hg19) ; chr6:g.139373259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373259A>G , CM000668.2:g.139373259A>G	GRCh38
NC_000006.11:g.139694396A>G , CM000668.1:g.139694396A>G	GRCh37
NC_000006.10:g.139736089A>G	NCBI36
NG_016169.1:g.6390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.686T>C MANE Select	ENSP00000356623.2:p.Met229Thr
ENST00000367651.3:c.686T>C	ENSP00000356623.2:p.Met229Thr
ENST00000536159.2:c.686T>C	ENSP00000442831.1:p.Met229Thr
ENST00000537332.2:c.701T>C	ENSP00000444198.2:p.Met234Thr
ENST00000618718.1:c.515T>C	ENSP00000479918.1:p.Met172Thr
NM_001168388.2:c.686T>C	NP_001161860.1:p.Met229Thr
NM_001168389.2:c.701T>C	NP_001161861.2:p.Met234Thr
NM_006079.4:c.686T>C	NP_006070.2:p.Met229Thr
NM_006079.5:c.686T>C MANE Select	NP_006070.2:p.Met229Thr
NM_001168388.3:c.686T>C	NP_001161860.1:p.Met229Thr
NM_001168389.3:c.701T>C	NP_001161861.2:p.Met234Thr