Canonical Allele Identifier: CA72289937

Gene: TGFBR2

Linked Data

• dbSNP Id: rs574457011
• gnomAD v2: 3-30648205-T-C
• gnomAD v3: 3-30606713-T-C
• gnomAD v4: 3-30606713-T-C
• MyVariant Identifiers: chr3:g.30648205T>C (hg19) ; chr3:g.30606713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606713T>C , CM000665.2:g.30606713T>C	GRCh38
NC_000003.11:g.30648205T>C , CM000665.1:g.30648205T>C	GRCh37
NC_000003.10:g.30623209T>C	NCBI36
NG_007490.1:g.5212T>C , LRG_779:g.5212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-171T>C MANE Select	ENSP00000295754.5:n.-171T>C
ENST00000295754.9:c.-171T>C	ENSP00000295754.5:n.-171T>C
ENST00000359013.4:c.-171T>C	ENSP00000351905.4:n.-171T>C
NM_001024847.2:c.-171T>C , LRG_779t1:c.-171T>C	NP_001020018.1:n.-171T>C
NM_003242.5:c.-171T>C	NP_003233.4:n.-171T>C
XM_011534045.1:c.-12+120T>C	XP_011532347.1:n.-12+120T>C
XM_011534045.3:c.-12+120T>C	XP_011532347.1:n.-12+120T>C
NM_003242.6:c.-171T>C MANE Select	NP_003233.4:n.-171T>C