Canonical Allele Identifier: CA351808428

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30672226-G-T
• MyVariant Identifiers: chr3:g.30713718G>T (hg19) ; chr3:g.30672226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672226G>T , CM000665.2:g.30672226G>T	GRCh38
NC_000003.11:g.30713718G>T , CM000665.1:g.30713718G>T	GRCh37
NC_000003.10:g.30688722G>T	NCBI36
NG_007490.1:g.70725G>T , LRG_779:g.70725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1043G>T MANE Select	ENSP00000295754.5:p.Arg348Leu
ENST00000672866.1:n.2639G>T
ENST00000295754.9:c.1043G>T	ENSP00000295754.5:p.Arg348Leu
ENST00000359013.4:c.1118G>T	ENSP00000351905.4:p.Arg373Leu
NM_001024847.2:c.1118G>T , LRG_779t1:c.1118G>T	NP_001020018.1:p.Arg373Leu
NM_003242.5:c.1043G>T	NP_003233.4:p.Arg348Leu
XM_011534043.1:c.1070G>T	XP_011532345.1:p.Arg357Leu
XM_011534044.1:c.995G>T	XP_011532346.1:p.Arg332Leu
XM_011534045.1:c.938G>T	XP_011532347.1:p.Arg313Leu
XM_011534043.2:c.1070G>T	XP_011532345.1:p.Arg357Leu
XM_011534045.3:c.938G>T	XP_011532347.1:p.Arg313Leu
XM_017007106.1:c.938G>T	XP_016862595.1:p.Arg313Leu
NM_003242.6:c.1043G>T MANE Select	NP_003233.4:p.Arg348Leu