Canonical Allele Identifier: CA344725815

Gene: TGFB2

Linked Data

• gnomAD v4: 1-218347038-C-A
• MyVariant Identifiers: chr1:g.218520380C>A (hg19) ; chr1:g.218347038C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218347038C>A , CM000663.2:g.218347038C>A	GRCh38
NC_000001.10:g.218520380C>A , CM000663.1:g.218520380C>A	GRCh37
NC_000001.9:g.216587003C>A	NCBI36
NG_027721.1:g.6705C>A
NG_027721.2:g.6705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.337C>A MANE Select	ENSP00000355897.4:p.Pro113Thr
ENST00000366929.4:c.337C>A	ENSP00000355896.4:p.Pro113Thr
ENST00000366930.8:c.337C>A	ENSP00000355897.4:p.Pro113Thr
ENST00000488793.1:n.1C>A
NM_001135599.2:c.337C>A	NP_001129071.1:p.Pro113Thr
NM_003238.3:c.337C>A	NP_003229.1:p.Pro113Thr
NM_001135599.3:c.337C>A	NP_001129071.1:p.Pro113Thr
NM_003238.4:c.337C>A	NP_003229.1:p.Pro113Thr
NR_138148.1:n.1755C>A
NR_138149.1:n.1755C>A
NM_003238.5:c.337C>A	NP_003229.1:p.Pro113Thr
NM_003238.6:c.337C>A MANE Select	NP_003229.1:p.Pro113Thr
NM_001135599.4:c.337C>A	NP_001129071.1:p.Pro113Thr
NR_138148.2:n.1703C>A
NR_138149.2:n.1703C>A