Canonical Allele Identifier: CA1398712

Gene: TGFB2

Linked Data

• dbSNP Id: rs777601980
• ExAC: 1:218614749 AATG / A
• gnomAD v2: 1-218614749-AATG-A
• gnomAD v3: 1-218441407-AATG-A
• gnomAD v4: 1-218441407-AATG-A
• MyVariant Identifiers: chr1:g.218614750_218614752del (hg19) ; chr1:g.218441409_218441411del (hg38) ; chr1:g.218441408_218441410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441415_218441417del , CM000663.2:g.218441415_218441417del	GRCh38
NC_000001.10:g.218614757_218614759del , CM000663.1:g.218614757_218614759del	GRCh37
NC_000001.9:g.216681380_216681382del	NCBI36
NG_027721.1:g.101082_101084del
NG_027721.2:g.101082_101084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*53_*55del MANE Select	ENSP00000355897.4:n.*53_*55del
ENST00000366929.4:c.*53_*55del	ENSP00000355896.4:n.*53_*55del
ENST00000366930.8:c.*53_*55del	ENSP00000355897.4:n.*53_*55del
ENST00000479322.1:n.782_784del
NM_001135599.2:c.*53_*55del	NP_001129071.1:n.*53_*55del
NM_003238.3:c.*53_*55del	NP_003229.1:n.*53_*55del
NM_001135599.3:c.*53_*55del	NP_001129071.1:n.*53_*55del
NM_003238.4:c.*53_*55del	NP_003229.1:n.*53_*55del
NR_138148.1:n.2601_2603del
NR_138149.1:n.2685_2687del
NM_003238.5:c.*53_*55del	NP_003229.1:n.*53_*55del
NM_003238.6:c.*53_*55del MANE Select	NP_003229.1:n.*53_*55del
NM_001135599.4:c.*53_*55del	NP_001129071.1:n.*53_*55del
NR_138148.2:n.2549_2551del
NR_138149.2:n.2633_2635del