Canonical Allele Identifier: CA731571234

Gene: TGFB2

Linked Data

• dbSNP Id: rs1489723560
• gnomAD v3: 1-218345682-C-A
• gnomAD v4: 1-218345682-C-A
• MyVariant Identifiers: chr1:g.218519024C>A (hg19) ; chr1:g.218345682C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218345682C>A , CM000663.2:g.218345682C>A	GRCh38
NC_000001.10:g.218519024C>A , CM000663.1:g.218519024C>A	GRCh37
NC_000001.9:g.216585647C>A	NCBI36
NG_027721.1:g.5349C>A
NG_027721.2:g.5349C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-1020C>A MANE Select	ENSP00000355897.4:n.-1020C>A
NM_001135599.2:c.-1020C>A	NP_001129071.1:n.-1020C>A
NM_003238.3:c.-1020C>A	NP_003229.1:n.-1020C>A
NM_001135599.3:c.-1020C>A	NP_001129071.1:n.-1020C>A
NM_003238.4:c.-1020C>A	NP_003229.1:n.-1020C>A
NR_138148.1:n.399C>A
NR_138149.1:n.399C>A
NM_003238.5:c.-1020C>A	NP_003229.1:n.-1020C>A
NM_003238.6:c.-1020C>A MANE Select	NP_003229.1:n.-1020C>A
NM_001135599.4:c.-1020C>A	NP_001129071.1:n.-1020C>A
NR_138148.2:n.347C>A
NR_138149.2:n.347C>A