Canonical Allele Identifier: CA542110290

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1451196158
• gnomAD v2: 3-30648347-T-C
• gnomAD v3: 3-30606855-T-C
• gnomAD v4: 3-30606855-T-C
• MyVariant Identifiers: chr3:g.30648347T>C (hg19) ; chr3:g.30606855T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606855T>C , CM000665.2:g.30606855T>C	GRCh38
NC_000003.11:g.30648347T>C , CM000665.1:g.30648347T>C	GRCh37
NC_000003.10:g.30623351T>C	NCBI36
NG_007490.1:g.5354T>C , LRG_779:g.5354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-29T>C MANE Select	ENSP00000295754.5:n.-29T>C
ENST00000295754.9:c.-29T>C	ENSP00000295754.5:n.-29T>C
ENST00000359013.4:c.-29T>C	ENSP00000351905.4:n.-29T>C
NM_001024847.2:c.-29T>C , LRG_779t1:c.-29T>C	NP_001020018.1:n.-29T>C
NM_003242.5:c.-29T>C	NP_003233.4:n.-29T>C
XM_011534045.1:c.-12+262T>C	XP_011532347.1:n.-12+262T>C
XM_011534045.3:c.-12+262T>C	XP_011532347.1:n.-12+262T>C
NM_003242.6:c.-29T>C MANE Select	NP_003233.4:n.-29T>C