Canonical Allele Identifier: CA731607200

Gene: TGFB2

Linked Data

• dbSNP Id: rs1484864697
• gnomAD v4: 1-218434248-G-A
• MyVariant Identifiers: chr1:g.218607590G>A (hg19) ; chr1:g.218434248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218434248G>A , CM000663.2:g.218434248G>A	GRCh38
NC_000001.10:g.218607590G>A , CM000663.1:g.218607590G>A	GRCh37
NC_000001.9:g.216674213G>A	NCBI36
NG_027721.1:g.93915G>A
NG_027721.2:g.93915G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.643+34G>A MANE Select	ENSP00000355897.4:n.643+34G>A
ENST00000366929.4:c.727+34G>A	ENSP00000355896.4:n.727+34G>A
ENST00000366930.8:c.643+34G>A	ENSP00000355897.4:n.643+34G>A
ENST00000479322.1:n.123G>A
ENST00000488793.1:n.341G>A
NM_001135599.2:c.727+34G>A	NP_001129071.1:n.727+34G>A
NM_003238.3:c.643+34G>A	NP_003229.1:n.643+34G>A
NM_001135599.3:c.727+34G>A	NP_001129071.1:n.727+34G>A
NM_003238.4:c.643+34G>A	NP_003229.1:n.643+34G>A
NR_138148.1:n.2061+34G>A
NR_138149.1:n.2145+34G>A
NM_003238.5:c.643+34G>A	NP_003229.1:n.643+34G>A
NM_003238.6:c.643+34G>A MANE Select	NP_003229.1:n.643+34G>A
NM_001135599.4:c.727+34G>A	NP_001129071.1:n.727+34G>A
NR_138148.2:n.2009+34G>A
NR_138149.2:n.2093+34G>A