Canonical Allele Identifier: CA71544792

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1021417628
• gnomAD v3: 3-30689320-C-T
• gnomAD v4: 3-30689320-C-T
• MyVariant Identifiers: chr3:g.30730812C>T (hg19) ; chr3:g.30689320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689320C>T , CM000665.2:g.30689320C>T	GRCh38
NC_000003.11:g.30730812C>T , CM000665.1:g.30730812C>T	GRCh37
NC_000003.10:g.30705816C>T	NCBI36
NG_007490.1:g.87819C>T , LRG_779:g.87819C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1524+809C>T MANE Select	ENSP00000295754.5:n.1524+809C>T
ENST00000672050.1:n.408+809C>T
ENST00000672866.1:n.3120+809C>T
ENST00000673203.1:n.402+809C>T
ENST00000295754.9:c.1524+809C>T	ENSP00000295754.5:n.1524+809C>T
ENST00000359013.4:c.1599+809C>T	ENSP00000351905.4:n.1599+809C>T
NM_001024847.2:c.1599+809C>T , LRG_779t1:c.1599+809C>T	NP_001020018.1:n.1599+809C>T
NM_003242.5:c.1524+809C>T	NP_003233.4:n.1524+809C>T
XM_011534043.1:c.1551+809C>T	XP_011532345.1:n.1551+809C>T
XM_011534044.1:c.1476+809C>T	XP_011532346.1:n.1476+809C>T
XM_011534045.1:c.1419+809C>T	XP_011532347.1:n.1419+809C>T
XM_011534043.2:c.1551+809C>T	XP_011532345.1:n.1551+809C>T
XM_011534045.3:c.1419+809C>T	XP_011532347.1:n.1419+809C>T
XM_017007106.1:c.1419+809C>T	XP_016862595.1:n.1419+809C>T
NM_003242.6:c.1524+809C>T MANE Select	NP_003233.4:n.1524+809C>T