Canonical Allele Identifier: CA1139657939

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 915707
• ClinVar RCV Id: RCV001170896
• dbSNP Id: rs1697931973

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606871A>C , CM000665.2:g.30606871A>C	GRCh38
NC_000003.11:g.30648363A>C , CM000665.1:g.30648363A>C	GRCh37
NC_000003.10:g.30623367A>C	NCBI36
NG_007490.1:g.5370A>C , LRG_779:g.5370A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.-13A>C MANE Select	ENSP00000295754.5:n.-13A>C
ENST00000295754.9:c.-13A>C	ENSP00000295754.5:n.-13A>C
ENST00000359013.4:c.-13A>C	ENSP00000351905.4:n.-13A>C
NM_001024847.2:c.-13A>C , LRG_779t1:c.-13A>C	NP_001020018.1:n.-13A>C
NM_003242.5:c.-13A>C	NP_003233.4:n.-13A>C
XM_011534045.1:c.-12+278A>C	XP_011532347.1:n.-12+278A>C
XM_011534045.3:c.-12+278A>C	XP_011532347.1:n.-12+278A>C
NM_003242.6:c.-13A>C MANE Select	NP_003233.4:n.-13A>C