Canonical Allele Identifier: CA351830457

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606885-T-C
• MyVariant Identifiers: chr3:g.30648377T>C (hg19) ; chr3:g.30606885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606885T>C , CM000665.2:g.30606885T>C	GRCh38
NC_000003.11:g.30648377T>C , CM000665.1:g.30648377T>C	GRCh37
NC_000003.10:g.30623381T>C	NCBI36
NG_007490.1:g.5384T>C , LRG_779:g.5384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.2T>C MANE Select	ENSP00000295754.5:p.Met1Thr
ENST00000295754.9:c.2T>C	ENSP00000295754.5:p.Met1Thr
ENST00000359013.4:c.2T>C	ENSP00000351905.4:p.Met1Thr
NM_001024847.2:c.2T>C , LRG_779t1:c.2T>C	NP_001020018.1:p.Met1Thr
NM_003242.5:c.2T>C	NP_003233.4:p.Met1Thr
XM_011534045.1:c.-12+292T>C	XP_011532347.1:n.-12+292T>C
XM_011534045.3:c.-12+292T>C	XP_011532347.1:n.-12+292T>C
NM_003242.6:c.2T>C MANE Select	NP_003233.4:p.Met1Thr