Canonical Allele Identifier: CA72289945

Gene: TGFBR2

Linked Data

• dbSNP Id: rs556854818
• gnomAD v2: 3-30648250-C-T
• gnomAD v3: 3-30606758-C-T
• gnomAD v4: 3-30606758-C-T
• MyVariant Identifiers: chr3:g.30648250C>T (hg19) ; chr3:g.30606758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606758C>T , CM000665.2:g.30606758C>T	GRCh38
NC_000003.11:g.30648250C>T , CM000665.1:g.30648250C>T	GRCh37
NC_000003.10:g.30623254C>T	NCBI36
NG_007490.1:g.5257C>T , LRG_779:g.5257C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-126C>T MANE Select	ENSP00000295754.5:n.-126C>T
ENST00000295754.9:c.-126C>T	ENSP00000295754.5:n.-126C>T
ENST00000359013.4:c.-126C>T	ENSP00000351905.4:n.-126C>T
NM_001024847.2:c.-126C>T , LRG_779t1:c.-126C>T	NP_001020018.1:n.-126C>T
NM_003242.5:c.-126C>T	NP_003233.4:n.-126C>T
XM_011534045.1:c.-12+165C>T	XP_011532347.1:n.-12+165C>T
XM_011534045.3:c.-12+165C>T	XP_011532347.1:n.-12+165C>T
NM_003242.6:c.-126C>T MANE Select	NP_003233.4:n.-126C>T