Canonical Allele Identifier: CA731595629

Gene: TGFB2

Linked Data

• dbSNP Id: rs1353002448
• gnomAD v3: 1-218405083-G-A
• gnomAD v4: 1-218405083-G-A
• MyVariant Identifiers: chr1:g.218578425G>A (hg19) ; chr1:g.218405083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218405083G>A , CM000663.2:g.218405083G>A	GRCh38
NC_000001.10:g.218578425G>A , CM000663.1:g.218578425G>A	GRCh37
NC_000001.9:g.216645048G>A	NCBI36
NG_027721.1:g.64750G>A
NG_027721.2:g.64750G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.347-86G>A MANE Select	ENSP00000355897.4:n.347-86G>A
ENST00000366929.4:c.431-86G>A	ENSP00000355896.4:n.431-86G>A
ENST00000366930.8:c.347-86G>A	ENSP00000355897.4:n.347-86G>A
ENST00000488793.1:n.11-86G>A
NM_001135599.2:c.431-86G>A	NP_001129071.1:n.431-86G>A
NM_003238.3:c.347-86G>A	NP_003229.1:n.347-86G>A
NM_001135599.3:c.431-86G>A	NP_001129071.1:n.431-86G>A
NM_003238.4:c.347-86G>A	NP_003229.1:n.347-86G>A
NR_138148.1:n.1765-86G>A
NR_138149.1:n.1849-86G>A
NM_003238.5:c.347-86G>A	NP_003229.1:n.347-86G>A
NM_003238.6:c.347-86G>A MANE Select	NP_003229.1:n.347-86G>A
NM_001135599.4:c.431-86G>A	NP_001129071.1:n.431-86G>A
NR_138148.2:n.1713-86G>A
NR_138149.2:n.1797-86G>A