Canonical Allele Identifier: CA423174100
Gene: TGFB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.218614612T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218441270T>C , CM000663.2:g.218441270T>C GRCh38
NC_000001.10:g.218614612T>C , CM000663.1:g.218614612T>C GRCh37
NC_000001.9:g.216681235T>C NCBI36
NG_027721.1:g.100937T>C
NG_027721.2:g.100937T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.1153T>C MANE Select ENSP00000355897.4:p.Leu385=
ENST00000366929.4:c.1237T>C ENSP00000355896.4:p.Leu413=
ENST00000366930.8:c.1153T>C ENSP00000355897.4:p.Leu385=
ENST00000479322.1:n.637T>C
NM_001135599.2:c.1237T>C NP_001129071.1:p.Leu413=
NM_003238.3:c.1153T>C NP_003229.1:p.Leu385=
NM_001135599.3:c.1237T>C NP_001129071.1:p.Leu413=
NM_003238.4:c.1153T>C NP_003229.1:p.Leu385=
NR_138148.1:n.2456T>C
NR_138149.1:n.2540T>C
NM_003238.5:c.1153T>C NP_003229.1:p.Leu385=
NM_003238.6:c.1153T>C MANE Select NP_003229.1:p.Leu385=
NM_001135599.4:c.1237T>C NP_001129071.1:p.Leu413=
NR_138148.2:n.2404T>C
NR_138149.2:n.2488T>C