Canonical Allele Identifier: CA351808323

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1332138742
• MyVariant Identifiers: chr3:g.30713667G>C (hg19) ; chr3:g.30672175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672175G>C , CM000665.2:g.30672175G>C	GRCh38
NC_000003.11:g.30713667G>C , CM000665.1:g.30713667G>C	GRCh37
NC_000003.10:g.30688671G>C	NCBI36
NG_007490.1:g.70674G>C , LRG_779:g.70674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.992G>C MANE Select	ENSP00000295754.5:p.Gly331Ala
ENST00000672866.1:n.2588G>C
ENST00000295754.9:c.992G>C	ENSP00000295754.5:p.Gly331Ala
ENST00000359013.4:c.1067G>C	ENSP00000351905.4:p.Gly356Ala
NM_001024847.2:c.1067G>C , LRG_779t1:c.1067G>C	NP_001020018.1:p.Gly356Ala
NM_003242.5:c.992G>C	NP_003233.4:p.Gly331Ala
XM_011534043.1:c.1019G>C	XP_011532345.1:p.Gly340Ala
XM_011534044.1:c.944G>C	XP_011532346.1:p.Gly315Ala
XM_011534045.1:c.887G>C	XP_011532347.1:p.Gly296Ala
XM_011534043.2:c.1019G>C	XP_011532345.1:p.Gly340Ala
XM_011534045.3:c.887G>C	XP_011532347.1:p.Gly296Ala
XM_017007106.1:c.887G>C	XP_016862595.1:p.Gly296Ala
NM_003242.6:c.992G>C MANE Select	NP_003233.4:p.Gly331Ala