Canonical Allele Identifier: CA344727921

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218614622T>G (hg19) ; chr1:g.218441280T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441280T>G , CM000663.2:g.218441280T>G	GRCh38
NC_000001.10:g.218614622T>G , CM000663.1:g.218614622T>G	GRCh37
NC_000001.9:g.216681245T>G	NCBI36
NG_027721.1:g.100947T>G
NG_027721.2:g.100947T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1163T>G MANE Select	ENSP00000355897.4:p.Leu388Arg
ENST00000366929.4:c.1247T>G	ENSP00000355896.4:p.Leu416Arg
ENST00000366930.8:c.1163T>G	ENSP00000355897.4:p.Leu388Arg
ENST00000479322.1:n.647T>G
NM_001135599.2:c.1247T>G	NP_001129071.1:p.Leu416Arg
NM_003238.3:c.1163T>G	NP_003229.1:p.Leu388Arg
NM_001135599.3:c.1247T>G	NP_001129071.1:p.Leu416Arg
NM_003238.4:c.1163T>G	NP_003229.1:p.Leu388Arg
NR_138148.1:n.2466T>G
NR_138149.1:n.2550T>G
NM_003238.5:c.1163T>G	NP_003229.1:p.Leu388Arg
NM_003238.6:c.1163T>G MANE Select	NP_003229.1:p.Leu388Arg
NM_001135599.4:c.1247T>G	NP_001129071.1:p.Leu416Arg
NR_138148.2:n.2414T>G
NR_138149.2:n.2498T>G