Canonical Allele Identifier: CA731610200

Gene: TGFB2

Linked Data

• dbSNP Id: rs1159053834
• gnomAD v3: 1-218441556-C-CA
• gnomAD v4: 1-218441556-C-CA
• MyVariant Identifiers: chr1:g.218614898_218614899insA (hg19) ; chr1:g.218441556_218441557insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441563dup , CM000663.2:g.218441563dup	GRCh38
NC_000001.10:g.218614905dup , CM000663.1:g.218614905dup	GRCh37
NC_000001.9:g.216681528dup	NCBI36
NG_027721.1:g.101230dup
NG_027721.2:g.101230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*201dup MANE Select	ENSP00000355897.4:n.*201dup
ENST00000366929.4:c.*201dup	ENSP00000355896.4:n.*201dup
ENST00000366930.8:c.*201dup	ENSP00000355897.4:n.*201dup
ENST00000479322.1:n.930dup
NM_001135599.2:c.*201dup	NP_001129071.1:n.*201dup
NM_003238.3:c.*201dup	NP_003229.1:n.*201dup
NM_001135599.3:c.*201dup	NP_001129071.1:n.*201dup
NM_003238.4:c.*201dup	NP_003229.1:n.*201dup
NR_138148.1:n.2749dup
NR_138149.1:n.2833dup
NM_003238.5:c.*201dup	NP_003229.1:n.*201dup
NM_003238.6:c.*201dup MANE Select	NP_003229.1:n.*201dup
NM_001135599.4:c.*201dup	NP_001129071.1:n.*201dup
NR_138148.2:n.2697dup
NR_138149.2:n.2781dup