Canonical Allele Identifier: CA351808343

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1028590
• ClinVar RCV Id: RCV001329671
• dbSNP Id: rs1699354101
• MyVariant Identifiers: chr3:g.30713677G>T (hg19) ; chr3:g.30672185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672185G>T , CM000665.2:g.30672185G>T	GRCh38
NC_000003.11:g.30713677G>T , CM000665.1:g.30713677G>T	GRCh37
NC_000003.10:g.30688681G>T	NCBI36
NG_007490.1:g.70684G>T , LRG_779:g.70684G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1002G>T MANE Select	ENSP00000295754.5:p.Gln334His
ENST00000672866.1:n.2598G>T
ENST00000295754.9:c.1002G>T	ENSP00000295754.5:p.Gln334His
ENST00000359013.4:c.1077G>T	ENSP00000351905.4:p.Gln359His
NM_001024847.2:c.1077G>T , LRG_779t1:c.1077G>T	NP_001020018.1:p.Gln359His
NM_003242.5:c.1002G>T	NP_003233.4:p.Gln334His
XM_011534043.1:c.1029G>T	XP_011532345.1:p.Gln343His
XM_011534044.1:c.954G>T	XP_011532346.1:p.Gln318His
XM_011534045.1:c.897G>T	XP_011532347.1:p.Gln299His
XM_011534043.2:c.1029G>T	XP_011532345.1:p.Gln343His
XM_011534045.3:c.897G>T	XP_011532347.1:p.Gln299His
XM_017007106.1:c.897G>T	XP_016862595.1:p.Gln299His
NM_003242.6:c.1002G>T MANE Select	NP_003233.4:p.Gln334His