Canonical Allele Identifier: CA351830482

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30648391C>G (hg19) ; chr3:g.30606899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606899C>G , CM000665.2:g.30606899C>G	GRCh38
NC_000003.11:g.30648391C>G , CM000665.1:g.30648391C>G	GRCh37
NC_000003.10:g.30623395C>G	NCBI36
NG_007490.1:g.5398C>G , LRG_779:g.5398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.16C>G MANE Select	ENSP00000295754.5:p.Leu6Val
ENST00000295754.9:c.16C>G	ENSP00000295754.5:p.Leu6Val
ENST00000359013.4:c.16C>G	ENSP00000351905.4:p.Leu6Val
NM_001024847.2:c.16C>G , LRG_779t1:c.16C>G	NP_001020018.1:p.Leu6Val
NM_003242.5:c.16C>G	NP_003233.4:p.Leu6Val
XM_011534045.1:c.-12+306C>G	XP_011532347.1:n.-12+306C>G
XM_011534045.3:c.-12+306C>G	XP_011532347.1:n.-12+306C>G
NM_003242.6:c.16C>G MANE Select	NP_003233.4:p.Leu6Val