Canonical Allele Identifier: CA433058961
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125435420
MyVariant Identifiers: chr3:g.30713647C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672155C>T , CM000665.2:g.30672155C>T GRCh38
NC_000003.11:g.30713647C>T , CM000665.1:g.30713647C>T GRCh37
NC_000003.10:g.30688651C>T NCBI36
NG_007490.1:g.70654C>T , LRG_779:g.70654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.972C>T MANE Select ENSP00000295754.5:p.Ile324=
ENST00000672866.1:n.2568C>T
ENST00000295754.9:c.972C>T ENSP00000295754.5:p.Ile324=
ENST00000359013.4:c.1047C>T ENSP00000351905.4:p.Ile349=
NM_001024847.2:c.1047C>T , LRG_779t1:c.1047C>T NP_001020018.1:p.Ile349=
NM_003242.5:c.972C>T NP_003233.4:p.Ile324=
XM_011534043.1:c.999C>T XP_011532345.1:p.Ile333=
XM_011534044.1:c.924C>T XP_011532346.1:p.Ile308=
XM_011534045.1:c.867C>T XP_011532347.1:p.Ile289=
XM_011534043.2:c.999C>T XP_011532345.1:p.Ile333=
XM_011534045.3:c.867C>T XP_011532347.1:p.Ile289=
XM_017007106.1:c.867C>T XP_016862595.1:p.Ile289=
NM_003242.6:c.972C>T MANE Select NP_003233.4:p.Ile324=