Canonical Allele Identifier: CA323392

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213945
• ClinVar RCV Id: RCV000198865 ; RCV001804933
• dbSNP Id: rs727503473
• gnomAD v2: 3-30713691-G-T
• gnomAD v4: 3-30672199-G-T
• COSMIC: COSM6475875 ; COSM6475876
• MyVariant Identifiers: chr3:g.30713691G>T (hg19) ; chr3:g.30672199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672199G>T , CM000665.2:g.30672199G>T	GRCh38
NC_000003.11:g.30713691G>T , CM000665.1:g.30713691G>T	GRCh37
NC_000003.10:g.30688695G>T	NCBI36
NG_007490.1:g.70698G>T , LRG_779:g.70698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1016G>T MANE Select	ENSP00000295754.5:p.Arg339Leu
ENST00000672866.1:n.2612G>T
ENST00000295754.9:c.1016G>T	ENSP00000295754.5:p.Arg339Leu
ENST00000359013.4:c.1091G>T	ENSP00000351905.4:p.Arg364Leu
NM_001024847.2:c.1091G>T , LRG_779t1:c.1091G>T	NP_001020018.1:p.Arg364Leu
NM_003242.5:c.1016G>T	NP_003233.4:p.Arg339Leu
XM_011534043.1:c.1043G>T	XP_011532345.1:p.Arg348Leu
XM_011534044.1:c.968G>T	XP_011532346.1:p.Arg323Leu
XM_011534045.1:c.911G>T	XP_011532347.1:p.Arg304Leu
XM_011534043.2:c.1043G>T	XP_011532345.1:p.Arg348Leu
XM_011534045.3:c.911G>T	XP_011532347.1:p.Arg304Leu
XM_017007106.1:c.911G>T	XP_016862595.1:p.Arg304Leu
NM_003242.6:c.1016G>T MANE Select	NP_003233.4:p.Arg339Leu