Canonical Allele Identifier: CA351807568

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713324G>T (hg19) ; chr3:g.30671832G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671832G>T , CM000665.2:g.30671832G>T	GRCh38
NC_000003.11:g.30713324G>T , CM000665.1:g.30713324G>T	GRCh37
NC_000003.10:g.30688328G>T	NCBI36
NG_007490.1:g.70331G>T , LRG_779:g.70331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.649G>T MANE Select	ENSP00000295754.5:p.Ala217Ser
ENST00000672866.1:n.2245G>T
ENST00000295754.9:c.649G>T	ENSP00000295754.5:p.Ala217Ser
ENST00000359013.4:c.724G>T	ENSP00000351905.4:p.Ala242Ser
NM_001024847.2:c.724G>T , LRG_779t1:c.724G>T	NP_001020018.1:p.Ala242Ser
NM_003242.5:c.649G>T	NP_003233.4:p.Ala217Ser
XM_011534043.1:c.676G>T	XP_011532345.1:p.Ala226Ser
XM_011534044.1:c.601G>T	XP_011532346.1:p.Ala201Ser
XM_011534045.1:c.544G>T	XP_011532347.1:p.Ala182Ser
XM_011534043.2:c.676G>T	XP_011532345.1:p.Ala226Ser
XM_011534045.3:c.544G>T	XP_011532347.1:p.Ala182Ser
XM_017007106.1:c.544G>T	XP_016862595.1:p.Ala182Ser
NM_003242.6:c.649G>T MANE Select	NP_003233.4:p.Ala217Ser