Canonical Allele Identifier: CA432917624

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1152130
• ClinVar RCV Id: RCV001493316
• dbSNP Id: rs193922663
• MyVariant Identifiers: chr3:g.30713860G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672368G>T , CM000665.2:g.30672368G>T	GRCh38
NC_000003.11:g.30713860G>T , CM000665.1:g.30713860G>T	GRCh37
NC_000003.10:g.30688864G>T	NCBI36
NG_007490.1:g.70867G>T , LRG_779:g.70867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1185G>T MANE Select	ENSP00000295754.5:p.Leu395=
ENST00000672866.1:n.2781G>T
ENST00000295754.9:c.1185G>T	ENSP00000295754.5:p.Leu395=
ENST00000359013.4:c.1260G>T	ENSP00000351905.4:p.Leu420=
NM_001024847.2:c.1260G>T , LRG_779t1:c.1260G>T	NP_001020018.1:p.Leu420=
NM_003242.5:c.1185G>T	NP_003233.4:p.Leu395=
XM_011534043.1:c.1212G>T	XP_011532345.1:p.Leu404=
XM_011534044.1:c.1137G>T	XP_011532346.1:p.Leu379=
XM_011534045.1:c.1080G>T	XP_011532347.1:p.Leu360=
XM_011534043.2:c.1212G>T	XP_011532345.1:p.Leu404=
XM_011534045.3:c.1080G>T	XP_011532347.1:p.Leu360=
XM_017007106.1:c.1080G>T	XP_016862595.1:p.Leu360=
NM_003242.6:c.1185G>T MANE Select	NP_003233.4:p.Leu395=