Canonical Allele Identifier: CA432917964
Gene: TGFBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.30732926G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691434G>T , CM000665.2:g.30691434G>T GRCh38
NC_000003.11:g.30732926G>T , CM000665.1:g.30732926G>T GRCh37
NC_000003.10:g.30707930G>T NCBI36
NG_007490.1:g.89933G>T , LRG_779:g.89933G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1539G>T MANE Select ENSP00000295754.5:p.Val513=
ENST00000672050.1:n.423G>T
ENST00000672866.1:n.3135G>T
ENST00000673203.1:n.417G>T
ENST00000295754.9:c.1539G>T ENSP00000295754.5:p.Val513=
ENST00000359013.4:c.1614G>T ENSP00000351905.4:p.Val538=
NM_001024847.2:c.1614G>T , LRG_779t1:c.1614G>T NP_001020018.1:p.Val538=
NM_003242.5:c.1539G>T NP_003233.4:p.Val513=
XM_011534043.1:c.1566G>T XP_011532345.1:p.Val522=
XM_011534044.1:c.1491G>T XP_011532346.1:p.Val497=
XM_011534045.1:c.1434G>T XP_011532347.1:p.Val478=
XM_011534043.2:c.1566G>T XP_011532345.1:p.Val522=
XM_011534045.3:c.1434G>T XP_011532347.1:p.Val478=
XM_017007106.1:c.1434G>T XP_016862595.1:p.Val478=
NM_003242.6:c.1539G>T MANE Select NP_003233.4:p.Val513=