Canonical Allele Identifier: CA344727508

Gene: TGFB2

Linked Data

• gnomAD v4: 1-218437396-A-T
• MyVariant Identifiers: chr1:g.218610738A>T (hg19) ; chr1:g.218437396A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437396A>T , CM000663.2:g.218437396A>T	GRCh38
NC_000001.10:g.218610738A>T , CM000663.1:g.218610738A>T	GRCh37
NC_000001.9:g.216677361A>T	NCBI36
NG_027721.1:g.97063A>T
NG_027721.2:g.97063A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.986A>T MANE Select	ENSP00000355897.4:p.Asp329Val
ENST00000366929.4:c.1070A>T	ENSP00000355896.4:p.Asp357Val
ENST00000366930.8:c.986A>T	ENSP00000355897.4:p.Asp329Val
ENST00000479322.1:n.470A>T
NM_001135599.2:c.1070A>T	NP_001129071.1:p.Asp357Val
NM_003238.3:c.986A>T	NP_003229.1:p.Asp329Val
NM_001135599.3:c.1070A>T	NP_001129071.1:p.Asp357Val
NM_003238.4:c.986A>T	NP_003229.1:p.Asp329Val
NR_138148.1:n.2289A>T
NR_138149.1:n.2373A>T
NM_003238.5:c.986A>T	NP_003229.1:p.Asp329Val
NM_003238.6:c.986A>T MANE Select	NP_003229.1:p.Asp329Val
NM_001135599.4:c.1070A>T	NP_001129071.1:p.Asp357Val
NR_138148.2:n.2237A>T
NR_138149.2:n.2321A>T