Canonical Allele Identifier: CA351809466

Gene: TGFBR2

Linked Data

• dbSNP Id: rs121918715
• MyVariant Identifiers: chr3:g.30730003G>T (hg19) ; chr3:g.30688511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688511G>T , CM000665.2:g.30688511G>T	GRCh38
NC_000003.11:g.30730003G>T , CM000665.1:g.30730003G>T	GRCh37
NC_000003.10:g.30705007G>T	NCBI36
NG_007490.1:g.87010G>T , LRG_779:g.87010G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1524G>T MANE Select	ENSP00000295754.5:p.Gln508His
ENST00000672050.1:n.408G>T
ENST00000672866.1:n.3120G>T
ENST00000673203.1:n.402G>T
ENST00000295754.9:c.1524G>T	ENSP00000295754.5:p.Gln508His
ENST00000359013.4:c.1599G>T	ENSP00000351905.4:p.Gln533His
NM_001024847.2:c.1599G>T , LRG_779t1:c.1599G>T	NP_001020018.1:p.Gln533His
NM_003242.5:c.1524G>T	NP_003233.4:p.Gln508His
XM_011534043.1:c.1551G>T	XP_011532345.1:p.Gln517His
XM_011534044.1:c.1476G>T	XP_011532346.1:p.Gln492His
XM_011534045.1:c.1419G>T	XP_011532347.1:p.Gln473His
XM_011534043.2:c.1551G>T	XP_011532345.1:p.Gln517His
XM_011534045.3:c.1419G>T	XP_011532347.1:p.Gln473His
XM_017007106.1:c.1419G>T	XP_016862595.1:p.Gln473His
NM_003242.6:c.1524G>T MANE Select	NP_003233.4:p.Gln508His