Canonical Allele Identifier: CA2573132775

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1460771
• ClinVar RCV Id: RCV001965531
• dbSNP Id: rs2102527414

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346765_218346767del , CM000663.2:g.218346765_218346767del	GRCh38
NC_000001.10:g.218520107_218520109del , CM000663.1:g.218520107_218520109del	GRCh37
NC_000001.9:g.216586730_216586732del	NCBI36
NG_027721.1:g.6432_6434del
NG_027721.2:g.6432_6434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.64_66del MANE Select	ENSP00000355897.4:p.Ser22del
ENST00000366929.4:c.64_66del	ENSP00000355896.4:p.Ser22del
ENST00000366930.8:c.64_66del	ENSP00000355897.4:p.Ser22del
NM_001135599.2:c.64_66del	NP_001129071.1:p.Ser22del
NM_003238.3:c.64_66del	NP_003229.1:p.Ser22del
NM_001135599.3:c.64_66del	NP_001129071.1:p.Ser22del
NM_003238.4:c.64_66del	NP_003229.1:p.Ser22del
NR_138148.1:n.1482_1484del
NR_138149.1:n.1482_1484del
NM_003238.5:c.64_66del	NP_003229.1:p.Ser22del
NM_003238.6:c.64_66del MANE Select	NP_003229.1:p.Ser22del
NM_001135599.4:c.64_66del	NP_001129071.1:p.Ser22del
NR_138148.2:n.1430_1432del
NR_138149.2:n.1430_1432del