Canonical Allele Identifier: CA423177207
Gene: TGFB2 HGNC NCBI

Linked Data

dbSNP Id: rs375115534
MyVariant Identifiers: chr1:g.218578524C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218405182C>T , CM000663.2:g.218405182C>T GRCh38
NC_000001.10:g.218578524C>T , CM000663.1:g.218578524C>T GRCh37
NC_000001.9:g.216645147C>T NCBI36
NG_027721.1:g.64849C>T
NG_027721.2:g.64849C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.360C>T MANE Select ENSP00000355897.4:p.Pro120=
ENST00000366929.4:c.444C>T ENSP00000355896.4:p.Pro148=
ENST00000366930.8:c.360C>T ENSP00000355897.4:p.Pro120=
ENST00000488793.1:n.24C>T
NM_001135599.2:c.444C>T NP_001129071.1:p.Pro148=
NM_003238.3:c.360C>T NP_003229.1:p.Pro120=
NM_001135599.3:c.444C>T NP_001129071.1:p.Pro148=
NM_003238.4:c.360C>T NP_003229.1:p.Pro120=
NR_138148.1:n.1778C>T
NR_138149.1:n.1862C>T
NM_003238.5:c.360C>T NP_003229.1:p.Pro120=
NM_003238.6:c.360C>T MANE Select NP_003229.1:p.Pro120=
NM_001135599.4:c.444C>T NP_001129071.1:p.Pro148=
NR_138148.2:n.1726C>T
NR_138149.2:n.1810C>T