Canonical Allele Identifier: CA351830462

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2013002
• ClinVar RCV Id: RCV002856375 ; RCV004007633
• gnomAD v4: 3-30606887-G-A
• MyVariant Identifiers: chr3:g.30648379G>A (hg19) ; chr3:g.30606887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606887G>A , CM000665.2:g.30606887G>A	GRCh38
NC_000003.11:g.30648379G>A , CM000665.1:g.30648379G>A	GRCh37
NC_000003.10:g.30623383G>A	NCBI36
NG_007490.1:g.5386G>A , LRG_779:g.5386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.4G>A MANE Select	ENSP00000295754.5:p.Gly2Ser
ENST00000295754.9:c.4G>A	ENSP00000295754.5:p.Gly2Ser
ENST00000359013.4:c.4G>A	ENSP00000351905.4:p.Gly2Ser
NM_001024847.2:c.4G>A , LRG_779t1:c.4G>A	NP_001020018.1:p.Gly2Ser
NM_003242.5:c.4G>A	NP_003233.4:p.Gly2Ser
XM_011534045.1:c.-12+294G>A	XP_011532347.1:n.-12+294G>A
XM_011534045.3:c.-12+294G>A	XP_011532347.1:n.-12+294G>A
NM_003242.6:c.4G>A MANE Select	NP_003233.4:p.Gly2Ser