Canonical Allele Identifier: CA529466325

Gene: TGFB2

Linked Data

• dbSNP Id: rs769838909
• gnomAD v2: 1-218520032-C-CTTTT
• gnomAD v3: 1-218346690-C-CTTTT
• gnomAD v4: 1-218346690-C-CTTTT
• MyVariant Identifiers: chr1:g.218520033_218520034insTTTT (hg19) ; chr1:g.218346691_218346692insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346693_218346696dup , CM000663.2:g.218346693_218346696dup	GRCh38
NC_000001.10:g.218520035_218520038dup , CM000663.1:g.218520035_218520038dup	GRCh37
NC_000001.9:g.216586658_216586661dup	NCBI36
NG_027721.1:g.6360_6363dup
NG_027721.2:g.6360_6363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-9_-6dup MANE Select	ENSP00000355897.4:n.-9_-6dup
ENST00000366929.4:c.-9_-6dup	ENSP00000355896.4:n.-9_-6dup
ENST00000366930.8:c.-9_-6dup	ENSP00000355897.4:n.-9_-6dup
NM_001135599.2:c.-9_-6dup	NP_001129071.1:n.-9_-6dup
NM_003238.3:c.-9_-6dup	NP_003229.1:n.-9_-6dup
NM_001135599.3:c.-9_-6dup	NP_001129071.1:n.-9_-6dup
NM_003238.4:c.-9_-6dup	NP_003229.1:n.-9_-6dup
NR_138148.1:n.1410_1413dup
NR_138149.1:n.1410_1413dup
NM_003238.5:c.-9_-6dup	NP_003229.1:n.-9_-6dup
NM_003238.6:c.-9_-6dup MANE Select	NP_003229.1:n.-9_-6dup
NM_001135599.4:c.-9_-6dup	NP_001129071.1:n.-9_-6dup
NR_138148.2:n.1358_1361dup
NR_138149.2:n.1358_1361dup