Canonical Allele Identifier: CA432917623

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713858C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672366C>T , CM000665.2:g.30672366C>T	GRCh38
NC_000003.11:g.30713858C>T , CM000665.1:g.30713858C>T	GRCh37
NC_000003.10:g.30688862C>T	NCBI36
NG_007490.1:g.70865C>T , LRG_779:g.70865C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1183C>T MANE Select	ENSP00000295754.5:p.Leu395=
ENST00000672866.1:n.2779C>T
ENST00000295754.9:c.1183C>T	ENSP00000295754.5:p.Leu395=
ENST00000359013.4:c.1258C>T	ENSP00000351905.4:p.Leu420=
NM_001024847.2:c.1258C>T , LRG_779t1:c.1258C>T	NP_001020018.1:p.Leu420=
NM_003242.5:c.1183C>T	NP_003233.4:p.Leu395=
XM_011534043.1:c.1210C>T	XP_011532345.1:p.Leu404=
XM_011534044.1:c.1135C>T	XP_011532346.1:p.Leu379=
XM_011534045.1:c.1078C>T	XP_011532347.1:p.Leu360=
XM_011534043.2:c.1210C>T	XP_011532345.1:p.Leu404=
XM_011534045.3:c.1078C>T	XP_011532347.1:p.Leu360=
XM_017007106.1:c.1078C>T	XP_016862595.1:p.Leu360=
NM_003242.6:c.1183C>T MANE Select	NP_003233.4:p.Leu395=