Canonical Allele Identifier: CA906185549

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1396742235
• gnomAD v3: 3-30623188-C-T
• gnomAD v4: 3-30623188-C-T
• MyVariant Identifiers: chr3:g.30664680C>T (hg19) ; chr3:g.30623188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623188C>T , CM000665.2:g.30623188C>T	GRCh38
NC_000003.11:g.30664680C>T , CM000665.1:g.30664680C>T	GRCh37
NC_000003.10:g.30639684C>T	NCBI36
NG_007490.1:g.21687C>T , LRG_779:g.21687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+16211C>T MANE Select	ENSP00000295754.5:n.94+16211C>T
ENST00000673250.1:n.144-11C>T
ENST00000295754.9:c.94+16211C>T	ENSP00000295754.5:n.94+16211C>T
ENST00000359013.4:c.95-11C>T	ENSP00000351905.4:n.95-11C>T
NM_001024847.2:c.95-11C>T , LRG_779t1:c.95-11C>T	NP_001020018.1:n.95-11C>T
NM_003242.5:c.94+16211C>T	NP_003233.4:n.94+16211C>T
XM_011534043.1:c.47-11C>T	XP_011532345.1:n.47-11C>T
XM_011534044.1:c.46+8482C>T	XP_011532346.1:n.46+8482C>T
XM_011534045.1:c.-12+16595C>T	XP_011532347.1:n.-12+16595C>T
XM_011534043.2:c.47-11C>T	XP_011532345.1:n.47-11C>T
XM_011534045.3:c.-12+16595C>T	XP_011532347.1:n.-12+16595C>T
NM_003242.6:c.94+16211C>T MANE Select	NP_003233.4:n.94+16211C>T