Canonical Allele Identifier: CA344728005

Gene: TGFB2

Linked Data

• dbSNP Id: rs1571907728
• gnomAD v4: 1-218441318-G-A
• MyVariant Identifiers: chr1:g.218614660G>A (hg19) ; chr1:g.218441318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441318G>A , CM000663.2:g.218441318G>A	GRCh38
NC_000001.10:g.218614660G>A , CM000663.1:g.218614660G>A	GRCh37
NC_000001.9:g.216681283G>A	NCBI36
NG_027721.1:g.100985G>A
NG_027721.2:g.100985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1201G>A MANE Select	ENSP00000355897.4:p.Glu401Lys
ENST00000366929.4:c.1285G>A	ENSP00000355896.4:p.Glu429Lys
ENST00000366930.8:c.1201G>A	ENSP00000355897.4:p.Glu401Lys
ENST00000479322.1:n.685G>A
NM_001135599.2:c.1285G>A	NP_001129071.1:p.Glu429Lys
NM_003238.3:c.1201G>A	NP_003229.1:p.Glu401Lys
NM_001135599.3:c.1285G>A	NP_001129071.1:p.Glu429Lys
NM_003238.4:c.1201G>A	NP_003229.1:p.Glu401Lys
NR_138148.1:n.2504G>A
NR_138149.1:n.2588G>A
NM_003238.5:c.1201G>A	NP_003229.1:p.Glu401Lys
NM_003238.6:c.1201G>A MANE Select	NP_003229.1:p.Glu401Lys
NM_001135599.4:c.1285G>A	NP_001129071.1:p.Glu429Lys
NR_138148.2:n.2452G>A
NR_138149.2:n.2536G>A