Canonical Allele Identifier: CA351808240

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713630A>C (hg19) ; chr3:g.30672138A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672138A>C , CM000665.2:g.30672138A>C	GRCh38
NC_000003.11:g.30713630A>C , CM000665.1:g.30713630A>C	GRCh37
NC_000003.10:g.30688634A>C	NCBI36
NG_007490.1:g.70637A>C , LRG_779:g.70637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.955A>C MANE Select	ENSP00000295754.5:p.Lys319Gln
ENST00000672866.1:n.2551A>C
ENST00000295754.9:c.955A>C	ENSP00000295754.5:p.Lys319Gln
ENST00000359013.4:c.1030A>C	ENSP00000351905.4:p.Lys344Gln
NM_001024847.2:c.1030A>C , LRG_779t1:c.1030A>C	NP_001020018.1:p.Lys344Gln
NM_003242.5:c.955A>C	NP_003233.4:p.Lys319Gln
XM_011534043.1:c.982A>C	XP_011532345.1:p.Lys328Gln
XM_011534044.1:c.907A>C	XP_011532346.1:p.Lys303Gln
XM_011534045.1:c.850A>C	XP_011532347.1:p.Lys284Gln
XM_011534043.2:c.982A>C	XP_011532345.1:p.Lys328Gln
XM_011534045.3:c.850A>C	XP_011532347.1:p.Lys284Gln
XM_017007106.1:c.850A>C	XP_016862595.1:p.Lys284Gln
NM_003242.6:c.955A>C MANE Select	NP_003233.4:p.Lys319Gln