Canonical Allele Identifier: CA046400

Gene: TGFBR2

Linked Data

• dbSNP Id: rs201484143
• ExAC: 3:30715731 A / C
• gnomAD v2: 3-30715731-A-C
• gnomAD v3: 3-30674239-A-C
• gnomAD v4: 3-30674239-A-C
• MyVariant Identifiers: chr3:g.30715731A>C (hg19) ; chr3:g.30674239A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674239A>C , CM000665.2:g.30674239A>C	GRCh38
NC_000003.11:g.30715731A>C , CM000665.1:g.30715731A>C	GRCh37
NC_000003.10:g.30690735A>C	NCBI36
NG_007490.1:g.72738A>C , LRG_779:g.72738A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1389A>C MANE Select	ENSP00000295754.5:p.Ala463=
ENST00000672866.1:n.2985A>C
ENST00000673203.1:n.267A>C
ENST00000295754.9:c.1389A>C	ENSP00000295754.5:p.Ala463=
ENST00000359013.4:c.1464A>C	ENSP00000351905.4:p.Ala488=
NM_001024847.2:c.1464A>C , LRG_779t1:c.1464A>C	NP_001020018.1:p.Ala488=
NM_003242.5:c.1389A>C	NP_003233.4:p.Ala463=
XM_011534043.1:c.1416A>C	XP_011532345.1:p.Ala472=
XM_011534044.1:c.1341A>C	XP_011532346.1:p.Ala447=
XM_011534045.1:c.1284A>C	XP_011532347.1:p.Ala428=
XM_011534043.2:c.1416A>C	XP_011532345.1:p.Ala472=
XM_011534045.3:c.1284A>C	XP_011532347.1:p.Ala428=
XM_017007106.1:c.1284A>C	XP_016862595.1:p.Ala428=
NM_003242.6:c.1389A>C MANE Select	NP_003233.4:p.Ala463=