Canonical Allele Identifier: CA2580062181

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1737850
• ClinVar RCV Id: RCV002323340

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346742_218346743insTATCT , CM000663.2:g.218346742_218346743insTATCT	GRCh38
NC_000001.10:g.218520084_218520085insTATCT , CM000663.1:g.218520084_218520085insTATCT	GRCh37
NC_000001.9:g.216586707_216586708insTATCT	NCBI36
NG_027721.1:g.6409_6410insTATCT
NG_027721.2:g.6409_6410insTATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.41_42insTATCT MANE Select	ENSP00000355897.4:p.Val15IlefsTer?
ENST00000366929.4:c.41_42insTATCT	ENSP00000355896.4:p.Val15IlefsTer?
ENST00000366930.8:c.41_42insTATCT	ENSP00000355897.4:p.Val15IlefsTer?
NM_001135599.2:c.41_42insTATCT	NP_001129071.1:p.Val15IlefsTer?
NM_003238.3:c.41_42insTATCT	NP_003229.1:p.Val15IlefsTer?
NM_001135599.3:c.41_42insTATCT	NP_001129071.1:p.Val15IlefsTer?
NM_003238.4:c.41_42insTATCT	NP_003229.1:p.Val15IlefsTer?
NR_138148.1:n.1459_1460insTATCT
NR_138149.1:n.1459_1460insTATCT
NM_003238.5:c.41_42insTATCT	NP_003229.1:p.Val15IlefsTer?
NM_003238.6:c.41_42insTATCT MANE Select	NP_003229.1:p.Val15IlefsTer?
NM_001135599.4:c.41_42insTATCT	NP_001129071.1:p.Val15IlefsTer?
NR_138148.2:n.1407_1408insTATCT
NR_138149.2:n.1407_1408insTATCT