Canonical Allele Identifier: CA1398347

Gene: TGFB2

Linked Data

• dbSNP Id: rs757188791
• ExAC: 1:218520002 T / A
• MyVariant Identifiers: chr1:g.218520002T>A (hg19) ; chr1:g.218346660T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346660T>A , CM000663.2:g.218346660T>A	GRCh38
NC_000001.10:g.218520002T>A , CM000663.1:g.218520002T>A	GRCh37
NC_000001.9:g.216586625T>A	NCBI36
NG_027721.1:g.6327T>A
NG_027721.2:g.6327T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-42T>A MANE Select	ENSP00000355897.4:n.-42T>A
ENST00000366929.4:c.-42T>A	ENSP00000355896.4:n.-42T>A
ENST00000366930.8:c.-42T>A	ENSP00000355897.4:n.-42T>A
NM_001135599.2:c.-42T>A	NP_001129071.1:n.-42T>A
NM_003238.3:c.-42T>A	NP_003229.1:n.-42T>A
NM_001135599.3:c.-42T>A	NP_001129071.1:n.-42T>A
NM_003238.4:c.-42T>A	NP_003229.1:n.-42T>A
NR_138148.1:n.1377T>A
NR_138149.1:n.1377T>A
NM_003238.5:c.-42T>A	NP_003229.1:n.-42T>A
NM_003238.6:c.-42T>A MANE Select	NP_003229.1:n.-42T>A
NM_001135599.4:c.-42T>A	NP_001129071.1:n.-42T>A
NR_138148.2:n.1325T>A
NR_138149.2:n.1325T>A