Canonical Allele Identifier: CA351808940

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30715634A>C (hg19) ; chr3:g.30674142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674142A>C , CM000665.2:g.30674142A>C	GRCh38
NC_000003.11:g.30715634A>C , CM000665.1:g.30715634A>C	GRCh37
NC_000003.10:g.30690638A>C	NCBI36
NG_007490.1:g.72641A>C , LRG_779:g.72641A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1292A>C MANE Select	ENSP00000295754.5:p.Glu431Ala
ENST00000672866.1:n.2888A>C
ENST00000673203.1:n.170A>C
ENST00000295754.9:c.1292A>C	ENSP00000295754.5:p.Glu431Ala
ENST00000359013.4:c.1367A>C	ENSP00000351905.4:p.Glu456Ala
NM_001024847.2:c.1367A>C , LRG_779t1:c.1367A>C	NP_001020018.1:p.Glu456Ala
NM_003242.5:c.1292A>C	NP_003233.4:p.Glu431Ala
XM_011534043.1:c.1319A>C	XP_011532345.1:p.Glu440Ala
XM_011534044.1:c.1244A>C	XP_011532346.1:p.Glu415Ala
XM_011534045.1:c.1187A>C	XP_011532347.1:p.Glu396Ala
XM_011534043.2:c.1319A>C	XP_011532345.1:p.Glu440Ala
XM_011534045.3:c.1187A>C	XP_011532347.1:p.Glu396Ala
XM_017007106.1:c.1187A>C	XP_016862595.1:p.Glu396Ala
NM_003242.6:c.1292A>C MANE Select	NP_003233.4:p.Glu431Ala