Canonical Allele Identifier: CA344727938

Gene: TGFB2

Linked Data

• COSMIC: COSM1320474 ; COSM1320475
• MyVariant Identifiers: chr1:g.218614630C>G (hg19) ; chr1:g.218441288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441288C>G , CM000663.2:g.218441288C>G	GRCh38
NC_000001.10:g.218614630C>G , CM000663.1:g.218614630C>G	GRCh37
NC_000001.9:g.216681253C>G	NCBI36
NG_027721.1:g.100955C>G
NG_027721.2:g.100955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1171C>G MANE Select	ENSP00000355897.4:p.Leu391Val
ENST00000366929.4:c.1255C>G	ENSP00000355896.4:p.Leu419Val
ENST00000366930.8:c.1171C>G	ENSP00000355897.4:p.Leu391Val
ENST00000479322.1:n.655C>G
NM_001135599.2:c.1255C>G	NP_001129071.1:p.Leu419Val
NM_003238.3:c.1171C>G	NP_003229.1:p.Leu391Val
NM_001135599.3:c.1255C>G	NP_001129071.1:p.Leu419Val
NM_003238.4:c.1171C>G	NP_003229.1:p.Leu391Val
NR_138148.1:n.2474C>G
NR_138149.1:n.2558C>G
NM_003238.5:c.1171C>G	NP_003229.1:p.Leu391Val
NM_003238.6:c.1171C>G MANE Select	NP_003229.1:p.Leu391Val
NM_001135599.4:c.1255C>G	NP_001129071.1:p.Leu419Val
NR_138148.2:n.2422C>G
NR_138149.2:n.2506C>G