Canonical Allele Identifier: CA915944005

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 636392
• ClinVar RCV Id: RCV000788200
• dbSNP Id: rs1571821161

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346995_218346998dup , CM000663.2:g.218346995_218346998dup	GRCh38
NC_000001.10:g.218520337_218520340dup , CM000663.1:g.218520337_218520340dup	GRCh37
NC_000001.9:g.216586960_216586963dup	NCBI36
NG_027721.1:g.6662_6665dup
NG_027721.2:g.6662_6665dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.294_297dup MANE Select	ENSP00000355897.4:p.Ala100LeufsTer?
ENST00000366929.4:c.294_297dup	ENSP00000355896.4:p.Ala100LeufsTer?
ENST00000366930.8:c.294_297dup	ENSP00000355897.4:p.Ala100LeufsTer?
NM_001135599.2:c.294_297dup	NP_001129071.1:p.Ala100LeufsTer?
NM_003238.3:c.294_297dup	NP_003229.1:p.Ala100LeufsTer?
NM_001135599.3:c.294_297dup	NP_001129071.1:p.Ala100LeufsTer?
NM_003238.4:c.294_297dup	NP_003229.1:p.Ala100LeufsTer?
NR_138148.1:n.1712_1715dup
NR_138149.1:n.1712_1715dup
NM_003238.5:c.294_297dup	NP_003229.1:p.Ala100LeufsTer?
NM_003238.6:c.294_297dup MANE Select	NP_003229.1:p.Ala100LeufsTer?
NM_001135599.4:c.294_297dup	NP_001129071.1:p.Ala100LeufsTer?
NR_138148.2:n.1660_1663dup
NR_138149.2:n.1660_1663dup