Canonical Allele Identifier: CA433058538
Gene: TGFBR2 HGNC NCBI

Linked Data

COSMIC: COSM730360
MyVariant Identifiers: chr3:g.30713392A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671900A>G , CM000665.2:g.30671900A>G GRCh38
NC_000003.11:g.30713392A>G , CM000665.1:g.30713392A>G GRCh37
NC_000003.10:g.30688396A>G NCBI36
NG_007490.1:g.70399A>G , LRG_779:g.70399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.717A>G MANE Select ENSP00000295754.5:p.Thr239=
ENST00000672866.1:n.2313A>G
ENST00000295754.9:c.717A>G ENSP00000295754.5:p.Thr239=
ENST00000359013.4:c.792A>G ENSP00000351905.4:p.Thr264=
NM_001024847.2:c.792A>G , LRG_779t1:c.792A>G NP_001020018.1:p.Thr264=
NM_003242.5:c.717A>G NP_003233.4:p.Thr239=
XM_011534043.1:c.744A>G XP_011532345.1:p.Thr248=
XM_011534044.1:c.669A>G XP_011532346.1:p.Thr223=
XM_011534045.1:c.612A>G XP_011532347.1:p.Thr204=
XM_011534043.2:c.744A>G XP_011532345.1:p.Thr248=
XM_011534045.3:c.612A>G XP_011532347.1:p.Thr204=
XM_017007106.1:c.612A>G XP_016862595.1:p.Thr204=
NM_003242.6:c.717A>G MANE Select NP_003233.4:p.Thr239=