Canonical Allele Identifier: CA344727511

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218610740C>A (hg19) ; chr1:g.218437398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437398C>A , CM000663.2:g.218437398C>A	GRCh38
NC_000001.10:g.218610740C>A , CM000663.1:g.218610740C>A	GRCh37
NC_000001.9:g.216677363C>A	NCBI36
NG_027721.1:g.97065C>A
NG_027721.2:g.97065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.988C>A MANE Select	ENSP00000355897.4:p.Leu330Ile
ENST00000366929.4:c.1072C>A	ENSP00000355896.4:p.Leu358Ile
ENST00000366930.8:c.988C>A	ENSP00000355897.4:p.Leu330Ile
ENST00000479322.1:n.472C>A
NM_001135599.2:c.1072C>A	NP_001129071.1:p.Leu358Ile
NM_003238.3:c.988C>A	NP_003229.1:p.Leu330Ile
NM_001135599.3:c.1072C>A	NP_001129071.1:p.Leu358Ile
NM_003238.4:c.988C>A	NP_003229.1:p.Leu330Ile
NR_138148.1:n.2291C>A
NR_138149.1:n.2375C>A
NM_003238.5:c.988C>A	NP_003229.1:p.Leu330Ile
NM_003238.6:c.988C>A MANE Select	NP_003229.1:p.Leu330Ile
NM_001135599.4:c.1072C>A	NP_001129071.1:p.Leu358Ile
NR_138148.2:n.2239C>A
NR_138149.2:n.2323C>A