Canonical Allele Identifier: CA432917638
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125436889
MyVariant Identifiers: chr3:g.30713879C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672387C>T , CM000665.2:g.30672387C>T GRCh38
NC_000003.11:g.30713879C>T , CM000665.1:g.30713879C>T GRCh37
NC_000003.10:g.30688883C>T NCBI36
NG_007490.1:g.70886C>T , LRG_779:g.70886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1204C>T MANE Select ENSP00000295754.5:p.Leu402=
ENST00000672866.1:n.2800C>T
ENST00000295754.9:c.1204C>T ENSP00000295754.5:p.Leu402=
ENST00000359013.4:c.1279C>T ENSP00000351905.4:p.Leu427=
NM_001024847.2:c.1279C>T , LRG_779t1:c.1279C>T NP_001020018.1:p.Leu427=
NM_003242.5:c.1204C>T NP_003233.4:p.Leu402=
XM_011534043.1:c.1231C>T XP_011532345.1:p.Leu411=
XM_011534044.1:c.1156C>T XP_011532346.1:p.Leu386=
XM_011534045.1:c.1099C>T XP_011532347.1:p.Leu367=
XM_011534043.2:c.1231C>T XP_011532345.1:p.Leu411=
XM_011534045.3:c.1099C>T XP_011532347.1:p.Leu367=
XM_017007106.1:c.1099C>T XP_016862595.1:p.Leu367=
NM_003242.6:c.1204C>T MANE Select NP_003233.4:p.Leu402=