Canonical Allele Identifier: CA351808242

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713630A>T (hg19) ; chr3:g.30672138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672138A>T , CM000665.2:g.30672138A>T	GRCh38
NC_000003.11:g.30713630A>T , CM000665.1:g.30713630A>T	GRCh37
NC_000003.10:g.30688634A>T	NCBI36
NG_007490.1:g.70637A>T , LRG_779:g.70637A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.955A>T MANE Select	ENSP00000295754.5:p.Lys319Ter
ENST00000672866.1:n.2551A>T
ENST00000295754.9:c.955A>T	ENSP00000295754.5:p.Lys319Ter
ENST00000359013.4:c.1030A>T	ENSP00000351905.4:p.Lys344Ter
NM_001024847.2:c.1030A>T , LRG_779t1:c.1030A>T	NP_001020018.1:p.Lys344Ter
NM_003242.5:c.955A>T	NP_003233.4:p.Lys319Ter
XM_011534043.1:c.982A>T	XP_011532345.1:p.Lys328Ter
XM_011534044.1:c.907A>T	XP_011532346.1:p.Lys303Ter
XM_011534045.1:c.850A>T	XP_011532347.1:p.Lys284Ter
XM_011534043.2:c.982A>T	XP_011532345.1:p.Lys328Ter
XM_011534045.3:c.850A>T	XP_011532347.1:p.Lys284Ter
XM_017007106.1:c.850A>T	XP_016862595.1:p.Lys284Ter
NM_003242.6:c.955A>T MANE Select	NP_003233.4:p.Lys319Ter