Canonical Allele Identifier: CA351808384

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713700T>A (hg19) ; chr3:g.30672208T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672208T>A , CM000665.2:g.30672208T>A	GRCh38
NC_000003.11:g.30713700T>A , CM000665.1:g.30713700T>A	GRCh37
NC_000003.10:g.30688704T>A	NCBI36
NG_007490.1:g.70707T>A , LRG_779:g.70707T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1025T>A MANE Select	ENSP00000295754.5:p.Ile342Asn
ENST00000672866.1:n.2621T>A
ENST00000295754.9:c.1025T>A	ENSP00000295754.5:p.Ile342Asn
ENST00000359013.4:c.1100T>A	ENSP00000351905.4:p.Ile367Asn
NM_001024847.2:c.1100T>A , LRG_779t1:c.1100T>A	NP_001020018.1:p.Ile367Asn
NM_003242.5:c.1025T>A	NP_003233.4:p.Ile342Asn
XM_011534043.1:c.1052T>A	XP_011532345.1:p.Ile351Asn
XM_011534044.1:c.977T>A	XP_011532346.1:p.Ile326Asn
XM_011534045.1:c.920T>A	XP_011532347.1:p.Ile307Asn
XM_011534043.2:c.1052T>A	XP_011532345.1:p.Ile351Asn
XM_011534045.3:c.920T>A	XP_011532347.1:p.Ile307Asn
XM_017007106.1:c.920T>A	XP_016862595.1:p.Ile307Asn
NM_003242.6:c.1025T>A MANE Select	NP_003233.4:p.Ile342Asn