Canonical Allele Identifier: CA1398355

Gene: TGFB2

Linked Data

• dbSNP Id: rs769838909
• ExAC: 1:218520032 CT / C
• gnomAD v2: 1-218520032-CT-C
• gnomAD v3: 1-218346690-CT-C
• gnomAD v4: 1-218346690-CT-C
• MyVariant Identifiers: chr1:g.218520033del (hg19) ; chr1:g.218346691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346696del , CM000663.2:g.218346696del	GRCh38
NC_000001.10:g.218520038del , CM000663.1:g.218520038del	GRCh37
NC_000001.9:g.216586661del	NCBI36
NG_027721.1:g.6363del
NG_027721.2:g.6363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-6del MANE Select	ENSP00000355897.4:n.-6del
ENST00000366929.4:c.-6del	ENSP00000355896.4:n.-6del
ENST00000366930.8:c.-6del	ENSP00000355897.4:n.-6del
NM_001135599.2:c.-6del	NP_001129071.1:n.-6del
NM_003238.3:c.-6del	NP_003229.1:n.-6del
NM_001135599.3:c.-6del	NP_001129071.1:n.-6del
NM_003238.4:c.-6del	NP_003229.1:n.-6del
NR_138148.1:n.1413del
NR_138149.1:n.1413del
NM_003238.5:c.-6del	NP_003229.1:n.-6del
NM_003238.6:c.-6del MANE Select	NP_003229.1:n.-6del
NM_001135599.4:c.-6del	NP_001129071.1:n.-6del
NR_138148.2:n.1361del
NR_138149.2:n.1361del