Canonical Allele Identifier: CA423174096

Gene: TGFB2

Linked Data

• gnomAD v4: 1-218441263-C-G
• MyVariant Identifiers: chr1:g.218614605C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441263C>G , CM000663.2:g.218441263C>G	GRCh38
NC_000001.10:g.218614605C>G , CM000663.1:g.218614605C>G	GRCh37
NC_000001.9:g.216681228C>G	NCBI36
NG_027721.1:g.100930C>G
NG_027721.2:g.100930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1146C>G MANE Select	ENSP00000355897.4:p.Ser382=
ENST00000366929.4:c.1230C>G	ENSP00000355896.4:p.Ser410=
ENST00000366930.8:c.1146C>G	ENSP00000355897.4:p.Ser382=
ENST00000479322.1:n.630C>G
NM_001135599.2:c.1230C>G	NP_001129071.1:p.Ser410=
NM_003238.3:c.1146C>G	NP_003229.1:p.Ser382=
NM_001135599.3:c.1230C>G	NP_001129071.1:p.Ser410=
NM_003238.4:c.1146C>G	NP_003229.1:p.Ser382=
NR_138148.1:n.2449C>G
NR_138149.1:n.2533C>G
NM_003238.5:c.1146C>G	NP_003229.1:p.Ser382=
NM_003238.6:c.1146C>G MANE Select	NP_003229.1:p.Ser382=
NM_001135599.4:c.1230C>G	NP_001129071.1:p.Ser410=
NR_138148.2:n.2397C>G
NR_138149.2:n.2481C>G