Canonical Allele Identifier: CA351808485

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 928405
• ClinVar RCV Id: RCV001192266
• dbSNP Id: rs189119533
• MyVariant Identifiers: chr3:g.30713753C>T (hg19) ; chr3:g.30672261C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672261C>T , CM000665.2:g.30672261C>T	GRCh38
NC_000003.11:g.30713753C>T , CM000665.1:g.30713753C>T	GRCh37
NC_000003.10:g.30688757C>T	NCBI36
NG_007490.1:g.70760C>T , LRG_779:g.70760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1078C>T MANE Select	ENSP00000295754.5:p.His360Tyr
ENST00000672866.1:n.2674C>T
ENST00000295754.9:c.1078C>T	ENSP00000295754.5:p.His360Tyr
ENST00000359013.4:c.1153C>T	ENSP00000351905.4:p.His385Tyr
NM_001024847.2:c.1153C>T , LRG_779t1:c.1153C>T	NP_001020018.1:p.His385Tyr
NM_003242.5:c.1078C>T	NP_003233.4:p.His360Tyr
XM_011534043.1:c.1105C>T	XP_011532345.1:p.His369Tyr
XM_011534044.1:c.1030C>T	XP_011532346.1:p.His344Tyr
XM_011534045.1:c.973C>T	XP_011532347.1:p.His325Tyr
XM_011534043.2:c.1105C>T	XP_011532345.1:p.His369Tyr
XM_011534045.3:c.973C>T	XP_011532347.1:p.His325Tyr
XM_017007106.1:c.973C>T	XP_016862595.1:p.His325Tyr
NM_003242.6:c.1078C>T MANE Select	NP_003233.4:p.His360Tyr