Canonical Allele Identifier: CA1046431773

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30627192A>T , CM000665.2:g.30627192A>T	GRCh38
NC_000003.11:g.30668684A>T , CM000665.1:g.30668684A>T	GRCh37
NC_000003.10:g.30643688A>T	NCBI36
NG_007490.1:g.25691A>T , LRG_779:g.25691A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.95-17555A>T MANE Select	NP_003233.4:n.95-17555A>T
ENST00000295754.10:c.95-17555A>T MANE Select	ENSP00000295754.5:n.95-17555A>T
NM_001024847.2:c.169+3919A>T , LRG_779t1:c.169+3919A>T	NP_001020018.1:n.169+3919A>T
NM_003242.5:c.95-17555A>T	NP_003233.4:n.95-17555A>T
ENST00000295754.9:c.95-17555A>T	ENSP00000295754.5:n.95-17555A>T
ENST00000359013.4:c.169+3919A>T	ENSP00000351905.4:n.169+3919A>T
ENST00000673250.1:n.218+3919A>T
XM_011534043.1:c.121+3919A>T	XP_011532345.1:n.121+3919A>T
XM_011534043.2:c.121+3919A>T	XP_011532345.1:n.121+3919A>T
XM_011534044.1:c.46+12486A>T	XP_011532346.1:n.46+12486A>T
XM_011534045.1:c.-11-17555A>T	XP_011532347.1:n.-11-17555A>T
XM_011534045.3:c.-11-17555A>T	XP_011532347.1:n.-11-17555A>T