Canonical Allele Identifier: CA432917654
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125436986
MyVariant Identifiers: chr3:g.30713896T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672404T>C , CM000665.2:g.30672404T>C GRCh38
NC_000003.11:g.30713896T>C , CM000665.1:g.30713896T>C GRCh37
NC_000003.10:g.30688900T>C NCBI36
NG_007490.1:g.70903T>C , LRG_779:g.70903T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1221T>C MANE Select ENSP00000295754.5:p.Thr407=
ENST00000672866.1:n.2817T>C
ENST00000295754.9:c.1221T>C ENSP00000295754.5:p.Thr407=
ENST00000359013.4:c.1296T>C ENSP00000351905.4:p.Thr432=
NM_001024847.2:c.1296T>C , LRG_779t1:c.1296T>C NP_001020018.1:p.Thr432=
NM_003242.5:c.1221T>C NP_003233.4:p.Thr407=
XM_011534043.1:c.1248T>C XP_011532345.1:p.Thr416=
XM_011534044.1:c.1173T>C XP_011532346.1:p.Thr391=
XM_011534045.1:c.1116T>C XP_011532347.1:p.Thr372=
XM_011534043.2:c.1248T>C XP_011532345.1:p.Thr416=
XM_011534045.3:c.1116T>C XP_011532347.1:p.Thr372=
XM_017007106.1:c.1116T>C XP_016862595.1:p.Thr372=
NM_003242.6:c.1221T>C MANE Select NP_003233.4:p.Thr407=