Canonical Allele Identifier: CA423173636

Gene: TGFB2

Linked Data

• gnomAD v3: 1-218437367-A-T
• gnomAD v4: 1-218437367-A-T
• MyVariant Identifiers: chr1:g.218610709A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437367A>T , CM000663.2:g.218437367A>T	GRCh38
NC_000001.10:g.218610709A>T , CM000663.1:g.218610709A>T	GRCh37
NC_000001.9:g.216677332A>T	NCBI36
NG_027721.1:g.97034A>T
NG_027721.2:g.97034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.957A>T MANE Select	ENSP00000355897.4:p.Leu319=
ENST00000366929.4:c.1041A>T	ENSP00000355896.4:p.Leu347=
ENST00000366930.8:c.957A>T	ENSP00000355897.4:p.Leu319=
ENST00000479322.1:n.441A>T
NM_001135599.2:c.1041A>T	NP_001129071.1:p.Leu347=
NM_003238.3:c.957A>T	NP_003229.1:p.Leu319=
NM_001135599.3:c.1041A>T	NP_001129071.1:p.Leu347=
NM_003238.4:c.957A>T	NP_003229.1:p.Leu319=
NR_138148.1:n.2260A>T
NR_138149.1:n.2344A>T
NM_003238.5:c.957A>T	NP_003229.1:p.Leu319=
NM_003238.6:c.957A>T MANE Select	NP_003229.1:p.Leu319=
NM_001135599.4:c.1041A>T	NP_001129071.1:p.Leu347=
NR_138148.2:n.2208A>T
NR_138149.2:n.2292A>T