Canonical Allele Identifier: CA344727628

Gene: TGFB2

Linked Data

• gnomAD v4: 1-218437449-G-A
• MyVariant Identifiers: chr1:g.218610791G>A (hg19) ; chr1:g.218437449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437449G>A , CM000663.2:g.218437449G>A	GRCh38
NC_000001.10:g.218610791G>A , CM000663.1:g.218610791G>A	GRCh37
NC_000001.9:g.216677414G>A	NCBI36
NG_027721.1:g.97116G>A
NG_027721.2:g.97116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1039G>A MANE Select	ENSP00000355897.4:p.Ala347Thr
ENST00000366929.4:c.1123G>A	ENSP00000355896.4:p.Ala375Thr
ENST00000366930.8:c.1039G>A	ENSP00000355897.4:p.Ala347Thr
ENST00000479322.1:n.523G>A
NM_001135599.2:c.1123G>A	NP_001129071.1:p.Ala375Thr
NM_003238.3:c.1039G>A	NP_003229.1:p.Ala347Thr
NM_001135599.3:c.1123G>A	NP_001129071.1:p.Ala375Thr
NM_003238.4:c.1039G>A	NP_003229.1:p.Ala347Thr
NR_138148.1:n.2342G>A
NR_138149.1:n.2426G>A
NM_003238.5:c.1039G>A	NP_003229.1:p.Ala347Thr
NM_003238.6:c.1039G>A MANE Select	NP_003229.1:p.Ala347Thr
NM_001135599.4:c.1123G>A	NP_001129071.1:p.Ala375Thr
NR_138148.2:n.2290G>A
NR_138149.2:n.2374G>A