Canonical Allele Identifier: CA351809468

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 517118
• ClinVar RCV Id: RCV000609616
• dbSNP Id: rs727503475
• MyVariant Identifiers: chr3:g.30730004G>T (hg19) ; chr3:g.30688512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688512G>T , CM000665.2:g.30688512G>T	GRCh38
NC_000003.11:g.30730004G>T , CM000665.1:g.30730004G>T	GRCh37
NC_000003.10:g.30705008G>T	NCBI36
NG_007490.1:g.87011G>T , LRG_779:g.87011G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1524+1G>T MANE Select	ENSP00000295754.5:n.1524+1G>T
ENST00000672050.1:n.408+1G>T
ENST00000672866.1:n.3120+1G>T
ENST00000673203.1:n.402+1G>T
ENST00000295754.9:c.1524+1G>T	ENSP00000295754.5:n.1524+1G>T
ENST00000359013.4:c.1599+1G>T	ENSP00000351905.4:n.1599+1G>T
NM_001024847.2:c.1599+1G>T , LRG_779t1:c.1599+1G>T	NP_001020018.1:n.1599+1G>T
NM_003242.5:c.1524+1G>T	NP_003233.4:n.1524+1G>T
XM_011534043.1:c.1551+1G>T	XP_011532345.1:n.1551+1G>T
XM_011534044.1:c.1476+1G>T	XP_011532346.1:n.1476+1G>T
XM_011534045.1:c.1419+1G>T	XP_011532347.1:n.1419+1G>T
XM_011534043.2:c.1551+1G>T	XP_011532345.1:n.1551+1G>T
XM_011534045.3:c.1419+1G>T	XP_011532347.1:n.1419+1G>T
XM_017007106.1:c.1419+1G>T	XP_016862595.1:n.1419+1G>T
NM_003242.6:c.1524+1G>T MANE Select	NP_003233.4:n.1524+1G>T