Canonical Allele Identifier: CA71502593

Gene: TGFBR2

Linked Data

• dbSNP Id: rs753146044
• gnomAD v2: 3-30691136-C-T
• gnomAD v3: 3-30649644-C-T
• gnomAD v4: 3-30649644-C-T
• MyVariant Identifiers: chr3:g.30691136C>T (hg19) ; chr3:g.30649644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30649644C>T , CM000665.2:g.30649644C>T	GRCh38
NC_000003.11:g.30691136C>T , CM000665.1:g.30691136C>T	GRCh37
NC_000003.10:g.30666140C>T	NCBI36
NG_007490.1:g.48143C>T , LRG_779:g.48143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.264-626C>T MANE Select	ENSP00000295754.5:n.264-626C>T
ENST00000672866.1:n.1860-626C>T
ENST00000673250.1:n.388-626C>T
ENST00000295754.9:c.264-626C>T	ENSP00000295754.5:n.264-626C>T
ENST00000359013.4:c.339-626C>T	ENSP00000351905.4:n.339-626C>T
NM_001024847.2:c.339-626C>T , LRG_779t1:c.339-626C>T	NP_001020018.1:n.339-626C>T
NM_003242.5:c.264-626C>T	NP_003233.4:n.264-626C>T
XM_011534043.1:c.291-626C>T	XP_011532345.1:n.291-626C>T
XM_011534044.1:c.216-626C>T	XP_011532346.1:n.216-626C>T
XM_011534045.1:c.159-626C>T	XP_011532347.1:n.159-626C>T
XM_011534043.2:c.291-626C>T	XP_011532345.1:n.291-626C>T
XM_011534045.3:c.159-626C>T	XP_011532347.1:n.159-626C>T
XM_017007106.1:c.159-626C>T	XP_016862595.1:n.159-626C>T
NM_003242.6:c.264-626C>T MANE Select	NP_003233.4:n.264-626C>T