Canonical Allele Identifier: CA10609903

Gene: TGFB2 TGFB2-AS1

Linked Data

• ClinVar Variation Id: 295455
• ClinVar RCV Id: RCV000380719 ; RCV000830208
• dbSNP Id: rs10482718
• gnomAD v2: 1-218518742-A-G
• gnomAD v3: 1-218345400-A-G
• gnomAD v4: 1-218345400-A-G
• MyVariant Identifiers: chr1:g.218518742A>G (hg19) ; chr1:g.218345400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218345400A>G , CM000663.2:g.218345400A>G	GRCh38
NC_000001.10:g.218518742A>G , CM000663.1:g.218518742A>G	GRCh37
NC_000001.9:g.216585365A>G	NCBI36
NG_027721.1:g.5067A>G
NG_027721.2:g.5067A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.-1302A>G (TGFB2) MANE Select	ENSP00000355897.4:n.-1302A>G
NM_001135599.2:c.-1302A>G (TGFB2)	NP_001129071.1:n.-1302A>G
NM_003238.3:c.-1302A>G (TGFB2)	NP_003229.1:n.-1302A>G
NR_046268.1:n.77-12T>C (TGFB2-AS1)
NM_001135599.3:c.-1302A>G (TGFB2)	NP_001129071.1:n.-1302A>G
NM_003238.4:c.-1302A>G (TGFB2)	NP_003229.1:n.-1302A>G
NR_138148.1:n.117A>G (TGFB2)
NR_138149.1:n.117A>G (TGFB2)
NM_003238.5:c.-1302A>G (TGFB2)	NP_003229.1:n.-1302A>G
NM_003238.6:c.-1302A>G (TGFB2) MANE Select	NP_003229.1:n.-1302A>G
NM_001135599.4:c.-1302A>G (TGFB2)	NP_001129071.1:n.-1302A>G
NR_138148.2:n.65A>G (TGFB2)
NR_138149.2:n.65A>G (TGFB2)