Canonical Allele Identifier: CA731572026

Gene: TGFB2

Linked Data

• dbSNP Id: rs1477872870
• gnomAD v3: 1-218346645-ATTTCT-A
• gnomAD v4: 1-218346645-ATTTCT-A
• MyVariant Identifiers: chr1:g.218519988_218519992del (hg19) ; chr1:g.218346646_218346650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346649_218346653del , CM000663.2:g.218346649_218346653del	GRCh38
NC_000001.10:g.218519991_218519995del , CM000663.1:g.218519991_218519995del	GRCh37
NC_000001.9:g.216586614_216586618del	NCBI36
NG_027721.1:g.6316_6320del
NG_027721.2:g.6316_6320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-53_-49del MANE Select	ENSP00000355897.4:n.-53_-49del
ENST00000366929.4:c.-53_-49del	ENSP00000355896.4:n.-53_-49del
ENST00000366930.8:c.-53_-49del	ENSP00000355897.4:n.-53_-49del
NM_001135599.2:c.-53_-49del	NP_001129071.1:n.-53_-49del
NM_003238.3:c.-53_-49del	NP_003229.1:n.-53_-49del
NM_001135599.3:c.-53_-49del	NP_001129071.1:n.-53_-49del
NM_003238.4:c.-53_-49del	NP_003229.1:n.-53_-49del
NR_138148.1:n.1366_1370del
NR_138149.1:n.1366_1370del
NM_003238.5:c.-53_-49del	NP_003229.1:n.-53_-49del
NM_003238.6:c.-53_-49del MANE Select	NP_003229.1:n.-53_-49del
NM_001135599.4:c.-53_-49del	NP_001129071.1:n.-53_-49del
NR_138148.2:n.1314_1318del
NR_138149.2:n.1314_1318del