Canonical Allele Identifier: CA344728001

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218614658T>C (hg19) ; chr1:g.218441316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441316T>C , CM000663.2:g.218441316T>C	GRCh38
NC_000001.10:g.218614658T>C , CM000663.1:g.218614658T>C	GRCh37
NC_000001.9:g.216681281T>C	NCBI36
NG_027721.1:g.100983T>C
NG_027721.2:g.100983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1199T>C MANE Select	ENSP00000355897.4:p.Ile400Thr
ENST00000366929.4:c.1283T>C	ENSP00000355896.4:p.Ile428Thr
ENST00000366930.8:c.1199T>C	ENSP00000355897.4:p.Ile400Thr
ENST00000479322.1:n.683T>C
NM_001135599.2:c.1283T>C	NP_001129071.1:p.Ile428Thr
NM_003238.3:c.1199T>C	NP_003229.1:p.Ile400Thr
NM_001135599.3:c.1283T>C	NP_001129071.1:p.Ile428Thr
NM_003238.4:c.1199T>C	NP_003229.1:p.Ile400Thr
NR_138148.1:n.2502T>C
NR_138149.1:n.2586T>C
NM_003238.5:c.1199T>C	NP_003229.1:p.Ile400Thr
NM_003238.6:c.1199T>C MANE Select	NP_003229.1:p.Ile400Thr
NM_001135599.4:c.1283T>C	NP_001129071.1:p.Ile428Thr
NR_138148.2:n.2450T>C
NR_138149.2:n.2534T>C