Canonical Allele Identifier: CA344727887

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218614607A>T (hg19) ; chr1:g.218441265A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441265A>T , CM000663.2:g.218441265A>T	GRCh38
NC_000001.10:g.218614607A>T , CM000663.1:g.218614607A>T	GRCh37
NC_000001.9:g.216681230A>T	NCBI36
NG_027721.1:g.100932A>T
NG_027721.2:g.100932A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1148A>T MANE Select	ENSP00000355897.4:p.Gln383Leu
ENST00000366929.4:c.1232A>T	ENSP00000355896.4:p.Gln411Leu
ENST00000366930.8:c.1148A>T	ENSP00000355897.4:p.Gln383Leu
ENST00000479322.1:n.632A>T
NM_001135599.2:c.1232A>T	NP_001129071.1:p.Gln411Leu
NM_003238.3:c.1148A>T	NP_003229.1:p.Gln383Leu
NM_001135599.3:c.1232A>T	NP_001129071.1:p.Gln411Leu
NM_003238.4:c.1148A>T	NP_003229.1:p.Gln383Leu
NR_138148.1:n.2451A>T
NR_138149.1:n.2535A>T
NM_003238.5:c.1148A>T	NP_003229.1:p.Gln383Leu
NM_003238.6:c.1148A>T MANE Select	NP_003229.1:p.Gln383Leu
NM_001135599.4:c.1232A>T	NP_001129071.1:p.Gln411Leu
NR_138148.2:n.2399A>T
NR_138149.2:n.2483A>T