Canonical Allele Identifier: CA1398360

Gene: TGFB2

Linked Data

• dbSNP Id: rs759598088
• ExAC: 1:218520059 C / T
• gnomAD v2: 1-218520059-C-T
• gnomAD v4: 1-218346717-C-T
• MyVariant Identifiers: chr1:g.218520059C>T (hg19) ; chr1:g.218346717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346717C>T , CM000663.2:g.218346717C>T	GRCh38
NC_000001.10:g.218520059C>T , CM000663.1:g.218520059C>T	GRCh37
NC_000001.9:g.216586682C>T	NCBI36
NG_027721.1:g.6384C>T
NG_027721.2:g.6384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.16C>T MANE Select	ENSP00000355897.4:p.Leu6=
ENST00000366929.4:c.16C>T	ENSP00000355896.4:p.Leu6=
ENST00000366930.8:c.16C>T	ENSP00000355897.4:p.Leu6=
NM_001135599.2:c.16C>T	NP_001129071.1:p.Leu6=
NM_003238.3:c.16C>T	NP_003229.1:p.Leu6=
NM_001135599.3:c.16C>T	NP_001129071.1:p.Leu6=
NM_003238.4:c.16C>T	NP_003229.1:p.Leu6=
NR_138148.1:n.1434C>T
NR_138149.1:n.1434C>T
NM_003238.5:c.16C>T	NP_003229.1:p.Leu6=
NM_003238.6:c.16C>T MANE Select	NP_003229.1:p.Leu6=
NM_001135599.4:c.16C>T	NP_001129071.1:p.Leu6=
NR_138148.2:n.1382C>T
NR_138149.2:n.1382C>T