Canonical Allele Identifier: CA529466323

Gene: TGFB2

Linked Data

• dbSNP Id: rs1571820494
• gnomAD v2: 1-218520028-TCCAC-T
• gnomAD v3: 1-218346686-TCCAC-T
• gnomAD v4: 1-218346686-TCCAC-T
• MyVariant Identifiers: chr1:g.218520029_218520032del (hg19) ; chr1:g.218346687_218346690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346687_218346690del , CM000663.2:g.218346687_218346690del	GRCh38
NC_000001.10:g.218520029_218520032del , CM000663.1:g.218520029_218520032del	GRCh37
NC_000001.9:g.216586652_216586655del	NCBI36
NG_027721.1:g.6354_6357del
NG_027721.2:g.6354_6357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-15_-12del MANE Select	ENSP00000355897.4:n.-15_-12del
ENST00000366929.4:c.-15_-12del	ENSP00000355896.4:n.-15_-12del
ENST00000366930.8:c.-15_-12del	ENSP00000355897.4:n.-15_-12del
NM_001135599.2:c.-15_-12del	NP_001129071.1:n.-15_-12del
NM_003238.3:c.-15_-12del	NP_003229.1:n.-15_-12del
NM_001135599.3:c.-15_-12del	NP_001129071.1:n.-15_-12del
NM_003238.4:c.-15_-12del	NP_003229.1:n.-15_-12del
NR_138148.1:n.1404_1407del
NR_138149.1:n.1404_1407del
NM_003238.5:c.-15_-12del	NP_003229.1:n.-15_-12del
NM_003238.6:c.-15_-12del MANE Select	NP_003229.1:n.-15_-12del
NM_001135599.4:c.-15_-12del	NP_001129071.1:n.-15_-12del
NR_138148.2:n.1352_1355del
NR_138149.2:n.1352_1355del