Canonical Allele Identifier: CA351830480

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30648389T>G (hg19) ; chr3:g.30606897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606897T>G , CM000665.2:g.30606897T>G	GRCh38
NC_000003.11:g.30648389T>G , CM000665.1:g.30648389T>G	GRCh37
NC_000003.10:g.30623393T>G	NCBI36
NG_007490.1:g.5396T>G , LRG_779:g.5396T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.14T>G MANE Select	ENSP00000295754.5:p.Leu5Arg
ENST00000295754.9:c.14T>G	ENSP00000295754.5:p.Leu5Arg
ENST00000359013.4:c.14T>G	ENSP00000351905.4:p.Leu5Arg
NM_001024847.2:c.14T>G , LRG_779t1:c.14T>G	NP_001020018.1:p.Leu5Arg
NM_003242.5:c.14T>G	NP_003233.4:p.Leu5Arg
XM_011534045.1:c.-12+304T>G	XP_011532347.1:n.-12+304T>G
XM_011534045.3:c.-12+304T>G	XP_011532347.1:n.-12+304T>G
NM_003242.6:c.14T>G MANE Select	NP_003233.4:p.Leu5Arg