Canonical Allele Identifier: CA1398349

Gene: TGFB2

Linked Data

• dbSNP Id: rs748018397
• ExAC: 1:218520020 CT / C
• gnomAD v2: 1-218520020-CT-C
• gnomAD v3: 1-218346678-CT-C
• gnomAD v4: 1-218346678-CT-C
• MyVariant Identifiers: chr1:g.218520021del (hg19) ; chr1:g.218346680del (hg38) ; chr1:g.218346679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346686del , CM000663.2:g.218346686del	GRCh38
NC_000001.10:g.218520028del , CM000663.1:g.218520028del	GRCh37
NC_000001.9:g.216586651del	NCBI36
NG_027721.1:g.6353del
NG_027721.2:g.6353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-16del MANE Select	ENSP00000355897.4:n.-16del
ENST00000366929.4:c.-16del	ENSP00000355896.4:n.-16del
ENST00000366930.8:c.-16del	ENSP00000355897.4:n.-16del
NM_001135599.2:c.-16del	NP_001129071.1:n.-16del
NM_003238.3:c.-16del	NP_003229.1:n.-16del
NM_001135599.3:c.-16del	NP_001129071.1:n.-16del
NM_003238.4:c.-16del	NP_003229.1:n.-16del
NR_138148.1:n.1403del
NR_138149.1:n.1403del
NM_003238.5:c.-16del	NP_003229.1:n.-16del
NM_003238.6:c.-16del MANE Select	NP_003229.1:n.-16del
NM_001135599.4:c.-16del	NP_001129071.1:n.-16del
NR_138148.2:n.1351del
NR_138149.2:n.1351del