Canonical Allele Identifier: CA365876633

Gene: CITED2

Linked Data

• dbSNP Id: rs1562314259
• gnomAD v2: 6-139694481-T-G
• gnomAD v4: 6-139373344-T-G
• MyVariant Identifiers: chr6:g.139694481T>G (hg19) ; chr6:g.139373344T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373344T>G , CM000668.2:g.139373344T>G	GRCh38
NC_000006.11:g.139694481T>G , CM000668.1:g.139694481T>G	GRCh37
NC_000006.10:g.139736174T>G	NCBI36
NG_016169.1:g.6305A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.601A>C MANE Select	ENSP00000356623.2:p.Met201Leu
ENST00000367651.3:c.601A>C	ENSP00000356623.2:p.Met201Leu
ENST00000536159.2:c.601A>C	ENSP00000442831.1:p.Met201Leu
ENST00000537332.2:c.616A>C	ENSP00000444198.2:p.Met206Leu
ENST00000618718.1:c.477-47A>C	ENSP00000479918.1:n.477-47A>C
NM_001168388.2:c.601A>C	NP_001161860.1:p.Met201Leu
NM_001168389.2:c.616A>C	NP_001161861.2:p.Met206Leu
NM_006079.4:c.601A>C	NP_006070.2:p.Met201Leu
NM_006079.5:c.601A>C MANE Select	NP_006070.2:p.Met201Leu
NM_001168388.3:c.601A>C	NP_001161860.1:p.Met201Leu
NM_001168389.3:c.616A>C	NP_001161861.2:p.Met206Leu