Canonical Allele Identifier: CA37625837

Gene: TGFB2

Linked Data

• dbSNP Id: rs1021
• gnomAD v3: 1-218441556-C-T
• gnomAD v4: 1-218441556-C-T
• MyVariant Identifiers: chr1:g.218614898C>T (hg19) ; chr1:g.218441556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441556C>T , CM000663.2:g.218441556C>T	GRCh38
NC_000001.10:g.218614898C>T , CM000663.1:g.218614898C>T	GRCh37
NC_000001.9:g.216681521C>T	NCBI36
NG_027721.1:g.101223C>T
NG_027721.2:g.101223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*194C>T MANE Select	ENSP00000355897.4:n.*194C>T
ENST00000366929.4:c.*194C>T	ENSP00000355896.4:n.*194C>T
ENST00000366930.8:c.*194C>T	ENSP00000355897.4:n.*194C>T
ENST00000479322.1:n.923C>T
NM_001135599.2:c.*194C>T	NP_001129071.1:n.*194C>T
NM_003238.3:c.*194C>T	NP_003229.1:n.*194C>T
NM_001135599.3:c.*194C>T	NP_001129071.1:n.*194C>T
NM_003238.4:c.*194C>T	NP_003229.1:n.*194C>T
NR_138148.1:n.2742C>T
NR_138149.1:n.2826C>T
NM_003238.5:c.*194C>T	NP_003229.1:n.*194C>T
NM_003238.6:c.*194C>T MANE Select	NP_003229.1:n.*194C>T
NM_001135599.4:c.*194C>T	NP_001129071.1:n.*194C>T
NR_138148.2:n.2690C>T
NR_138149.2:n.2774C>T