Canonical Allele Identifier: CA351808461

Gene: TGFBR2

Linked Data

• dbSNP Id: rs777689025
• MyVariant Identifiers: chr3:g.30713735C>T (hg19) ; chr3:g.30672243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672243C>T , CM000665.2:g.30672243C>T	GRCh38
NC_000003.11:g.30713735C>T , CM000665.1:g.30713735C>T	GRCh37
NC_000003.10:g.30688739C>T	NCBI36
NG_007490.1:g.70742C>T , LRG_779:g.70742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1060C>T MANE Select	ENSP00000295754.5:p.Leu354Phe
ENST00000672866.1:n.2656C>T
ENST00000295754.9:c.1060C>T	ENSP00000295754.5:p.Leu354Phe
ENST00000359013.4:c.1135C>T	ENSP00000351905.4:p.Leu379Phe
NM_001024847.2:c.1135C>T , LRG_779t1:c.1135C>T	NP_001020018.1:p.Leu379Phe
NM_003242.5:c.1060C>T	NP_003233.4:p.Leu354Phe
XM_011534043.1:c.1087C>T	XP_011532345.1:p.Leu363Phe
XM_011534044.1:c.1012C>T	XP_011532346.1:p.Leu338Phe
XM_011534045.1:c.955C>T	XP_011532347.1:p.Leu319Phe
XM_011534043.2:c.1087C>T	XP_011532345.1:p.Leu363Phe
XM_011534045.3:c.955C>T	XP_011532347.1:p.Leu319Phe
XM_017007106.1:c.955C>T	XP_016862595.1:p.Leu319Phe
NM_003242.6:c.1060C>T MANE Select	NP_003233.4:p.Leu354Phe