Canonical Allele Identifier: CA433059069

Gene: TGFBR2

Linked Data

• dbSNP Id: rs113194608
• MyVariant Identifiers: chr3:g.30713737C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672245C>G , CM000665.2:g.30672245C>G	GRCh38
NC_000003.11:g.30713737C>G , CM000665.1:g.30713737C>G	GRCh37
NC_000003.10:g.30688741C>G	NCBI36
NG_007490.1:g.70744C>G , LRG_779:g.70744C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1062C>G MANE Select	ENSP00000295754.5:p.Leu354=
ENST00000672866.1:n.2658C>G
ENST00000295754.9:c.1062C>G	ENSP00000295754.5:p.Leu354=
ENST00000359013.4:c.1137C>G	ENSP00000351905.4:p.Leu379=
NM_001024847.2:c.1137C>G , LRG_779t1:c.1137C>G	NP_001020018.1:p.Leu379=
NM_003242.5:c.1062C>G	NP_003233.4:p.Leu354=
XM_011534043.1:c.1089C>G	XP_011532345.1:p.Leu363=
XM_011534044.1:c.1014C>G	XP_011532346.1:p.Leu338=
XM_011534045.1:c.957C>G	XP_011532347.1:p.Leu319=
XM_011534043.2:c.1089C>G	XP_011532345.1:p.Leu363=
XM_011534045.3:c.957C>G	XP_011532347.1:p.Leu319=
XM_017007106.1:c.957C>G	XP_016862595.1:p.Leu319=
NM_003242.6:c.1062C>G MANE Select	NP_003233.4:p.Leu354=