Canonical Allele Identifier: CA1398690

Gene: TGFB2

Linked Data

• dbSNP Id: rs776191174
• ExAC: 1:218614625 C / T
• gnomAD v2: 1-218614625-C-T
• gnomAD v4: 1-218441283-C-T
• MyVariant Identifiers: chr1:g.218614625C>T (hg19) ; chr1:g.218441283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441283C>T , CM000663.2:g.218441283C>T	GRCh38
NC_000001.10:g.218614625C>T , CM000663.1:g.218614625C>T	GRCh37
NC_000001.9:g.216681248C>T	NCBI36
NG_027721.1:g.100950C>T
NG_027721.2:g.100950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1166C>T MANE Select	ENSP00000355897.4:p.Thr389Ile
ENST00000366929.4:c.1250C>T	ENSP00000355896.4:p.Thr417Ile
ENST00000366930.8:c.1166C>T	ENSP00000355897.4:p.Thr389Ile
ENST00000479322.1:n.650C>T
NM_001135599.2:c.1250C>T	NP_001129071.1:p.Thr417Ile
NM_003238.3:c.1166C>T	NP_003229.1:p.Thr389Ile
NM_001135599.3:c.1250C>T	NP_001129071.1:p.Thr417Ile
NM_003238.4:c.1166C>T	NP_003229.1:p.Thr389Ile
NR_138148.1:n.2469C>T
NR_138149.1:n.2553C>T
NM_003238.5:c.1166C>T	NP_003229.1:p.Thr389Ile
NM_003238.6:c.1166C>T MANE Select	NP_003229.1:p.Thr389Ile
NM_001135599.4:c.1250C>T	NP_001129071.1:p.Thr417Ile
NR_138148.2:n.2417C>T
NR_138149.2:n.2501C>T