Canonical Allele Identifier: CA1398376

Gene: TGFB2

Linked Data

• dbSNP Id: rs745960678
• ExAC: 1:218520201 C / T
• gnomAD v2: 1-218520201-C-T
• MyVariant Identifiers: chr1:g.218520201C>T (hg19) ; chr1:g.218346859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346859C>T , CM000663.2:g.218346859C>T	GRCh38
NC_000001.10:g.218520201C>T , CM000663.1:g.218520201C>T	GRCh37
NC_000001.9:g.216586824C>T	NCBI36
NG_027721.1:g.6526C>T
NG_027721.2:g.6526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.158C>T MANE Select	ENSP00000355897.4:p.Pro53Leu
ENST00000366929.4:c.158C>T	ENSP00000355896.4:p.Pro53Leu
ENST00000366930.8:c.158C>T	ENSP00000355897.4:p.Pro53Leu
NM_001135599.2:c.158C>T	NP_001129071.1:p.Pro53Leu
NM_003238.3:c.158C>T	NP_003229.1:p.Pro53Leu
NM_001135599.3:c.158C>T	NP_001129071.1:p.Pro53Leu
NM_003238.4:c.158C>T	NP_003229.1:p.Pro53Leu
NR_138148.1:n.1576C>T
NR_138149.1:n.1576C>T
NM_003238.5:c.158C>T	NP_003229.1:p.Pro53Leu
NM_003238.6:c.158C>T MANE Select	NP_003229.1:p.Pro53Leu
NM_001135599.4:c.158C>T	NP_001129071.1:p.Pro53Leu
NR_138148.2:n.1524C>T
NR_138149.2:n.1524C>T