Canonical Allele Identifier: CA351807632

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713354A>T (hg19) ; chr3:g.30671862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671862A>T , CM000665.2:g.30671862A>T	GRCh38
NC_000003.11:g.30713354A>T , CM000665.1:g.30713354A>T	GRCh37
NC_000003.10:g.30688358A>T	NCBI36
NG_007490.1:g.70361A>T , LRG_779:g.70361A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.679A>T MANE Select	ENSP00000295754.5:p.Ile227Phe
ENST00000672866.1:n.2275A>T
ENST00000295754.9:c.679A>T	ENSP00000295754.5:p.Ile227Phe
ENST00000359013.4:c.754A>T	ENSP00000351905.4:p.Ile252Phe
NM_001024847.2:c.754A>T , LRG_779t1:c.754A>T	NP_001020018.1:p.Ile252Phe
NM_003242.5:c.679A>T	NP_003233.4:p.Ile227Phe
XM_011534043.1:c.706A>T	XP_011532345.1:p.Ile236Phe
XM_011534044.1:c.631A>T	XP_011532346.1:p.Ile211Phe
XM_011534045.1:c.574A>T	XP_011532347.1:p.Ile192Phe
XM_011534043.2:c.706A>T	XP_011532345.1:p.Ile236Phe
XM_011534045.3:c.574A>T	XP_011532347.1:p.Ile192Phe
XM_017007106.1:c.574A>T	XP_016862595.1:p.Ile192Phe
NM_003242.6:c.679A>T MANE Select	NP_003233.4:p.Ile227Phe