Canonical Allele Identifier: CA37544349

Gene: TGFB2

Linked Data

• dbSNP Id: rs766872271
• gnomAD v2: 1-218519980-ATTG-A
• gnomAD v3: 1-218346638-ATTG-A
• gnomAD v4: 1-218346638-ATTG-A
• MyVariant Identifiers: chr1:g.218519981_218519983del (hg19) ; chr1:g.218346639_218346641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346642_218346644del , CM000663.2:g.218346642_218346644del	GRCh38
NC_000001.10:g.218519984_218519986del , CM000663.1:g.218519984_218519986del	GRCh37
NC_000001.9:g.216586607_216586609del	NCBI36
NG_027721.1:g.6309_6311del
NG_027721.2:g.6309_6311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-60_-58del MANE Select	ENSP00000355897.4:n.-60_-58del
ENST00000366929.4:c.-60_-58del	ENSP00000355896.4:n.-60_-58del
ENST00000366930.8:c.-60_-58del	ENSP00000355897.4:n.-60_-58del
NM_001135599.2:c.-60_-58del	NP_001129071.1:n.-60_-58del
NM_003238.3:c.-60_-58del	NP_003229.1:n.-60_-58del
NM_001135599.3:c.-60_-58del	NP_001129071.1:n.-60_-58del
NM_003238.4:c.-60_-58del	NP_003229.1:n.-60_-58del
NR_138148.1:n.1359_1361del
NR_138149.1:n.1359_1361del
NM_003238.5:c.-60_-58del	NP_003229.1:n.-60_-58del
NM_003238.6:c.-60_-58del MANE Select	NP_003229.1:n.-60_-58del
NM_001135599.4:c.-60_-58del	NP_001129071.1:n.-60_-58del
NR_138148.2:n.1307_1309del
NR_138149.2:n.1307_1309del