Canonical Allele Identifier: CA433059043

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713725G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672233G>C , CM000665.2:g.30672233G>C	GRCh38
NC_000003.11:g.30713725G>C , CM000665.1:g.30713725G>C	GRCh37
NC_000003.10:g.30688729G>C	NCBI36
NG_007490.1:g.70732G>C , LRG_779:g.70732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1050G>C MANE Select	ENSP00000295754.5:p.Leu350=
ENST00000672866.1:n.2646G>C
ENST00000295754.9:c.1050G>C	ENSP00000295754.5:p.Leu350=
ENST00000359013.4:c.1125G>C	ENSP00000351905.4:p.Leu375=
NM_001024847.2:c.1125G>C , LRG_779t1:c.1125G>C	NP_001020018.1:p.Leu375=
NM_003242.5:c.1050G>C	NP_003233.4:p.Leu350=
XM_011534043.1:c.1077G>C	XP_011532345.1:p.Leu359=
XM_011534044.1:c.1002G>C	XP_011532346.1:p.Leu334=
XM_011534045.1:c.945G>C	XP_011532347.1:p.Leu315=
XM_011534043.2:c.1077G>C	XP_011532345.1:p.Leu359=
XM_011534045.3:c.945G>C	XP_011532347.1:p.Leu315=
XM_017007106.1:c.945G>C	XP_016862595.1:p.Leu315=
NM_003242.6:c.1050G>C MANE Select	NP_003233.4:p.Leu350=