Canonical Allele Identifier: CA351808101

Gene: TGFBR2

Linked Data

• dbSNP Id: rs772678321
• gnomAD v4: 3-30672072-A-T
• MyVariant Identifiers: chr3:g.30713564A>T (hg19) ; chr3:g.30672072A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672072A>T , CM000665.2:g.30672072A>T	GRCh38
NC_000003.11:g.30713564A>T , CM000665.1:g.30713564A>T	GRCh37
NC_000003.10:g.30688568A>T	NCBI36
NG_007490.1:g.70571A>T , LRG_779:g.70571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.889A>T MANE Select	ENSP00000295754.5:p.Ile297Phe
ENST00000672866.1:n.2485A>T
ENST00000295754.9:c.889A>T	ENSP00000295754.5:p.Ile297Phe
ENST00000359013.4:c.964A>T	ENSP00000351905.4:p.Ile322Phe
NM_001024847.2:c.964A>T , LRG_779t1:c.964A>T	NP_001020018.1:p.Ile322Phe
NM_003242.5:c.889A>T	NP_003233.4:p.Ile297Phe
XM_011534043.1:c.916A>T	XP_011532345.1:p.Ile306Phe
XM_011534044.1:c.841A>T	XP_011532346.1:p.Ile281Phe
XM_011534045.1:c.784A>T	XP_011532347.1:p.Ile262Phe
XM_011534043.2:c.916A>T	XP_011532345.1:p.Ile306Phe
XM_011534045.3:c.784A>T	XP_011532347.1:p.Ile262Phe
XM_017007106.1:c.784A>T	XP_016862595.1:p.Ile262Phe
NM_003242.6:c.889A>T MANE Select	NP_003233.4:p.Ile297Phe