Canonical Allele Identifier: CA351830771

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30664736G>T (hg19) ; chr3:g.30623244G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623244G>T , CM000665.2:g.30623244G>T	GRCh38
NC_000003.11:g.30664736G>T , CM000665.1:g.30664736G>T	GRCh37
NC_000003.10:g.30639740G>T	NCBI36
NG_007490.1:g.21743G>T , LRG_779:g.21743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+16267G>T MANE Select	ENSP00000295754.5:n.94+16267G>T
ENST00000673250.1:n.189G>T
ENST00000295754.9:c.94+16267G>T	ENSP00000295754.5:n.94+16267G>T
ENST00000359013.4:c.140G>T	ENSP00000351905.4:p.Cys47Phe
NM_001024847.2:c.140G>T , LRG_779t1:c.140G>T	NP_001020018.1:p.Cys47Phe
NM_003242.5:c.94+16267G>T	NP_003233.4:n.94+16267G>T
XM_011534043.1:c.92G>T	XP_011532345.1:p.Cys31Phe
XM_011534044.1:c.46+8538G>T	XP_011532346.1:n.46+8538G>T
XM_011534045.1:c.-12+16651G>T	XP_011532347.1:n.-12+16651G>T
XM_011534043.2:c.92G>T	XP_011532345.1:p.Cys31Phe
XM_011534045.3:c.-12+16651G>T	XP_011532347.1:n.-12+16651G>T
NM_003242.6:c.94+16267G>T MANE Select	NP_003233.4:n.94+16267G>T