Canonical Allele Identifier: CA72290184

Gene: TGFBR2

Linked Data

• dbSNP Id: rs559587051
• gnomAD v2: 3-30650082-G-T
• gnomAD v3: 3-30608590-G-T
• gnomAD v4: 3-30608590-G-T
• MyVariant Identifiers: chr3:g.30650082G>T (hg19) ; chr3:g.30608590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30608590G>T , CM000665.2:g.30608590G>T	GRCh38
NC_000003.11:g.30650082G>T , CM000665.1:g.30650082G>T	GRCh37
NC_000003.10:g.30625086G>T	NCBI36
NG_007490.1:g.7089G>T , LRG_779:g.7089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+1613G>T MANE Select	ENSP00000295754.5:n.94+1613G>T
ENST00000295754.9:c.94+1613G>T	ENSP00000295754.5:n.94+1613G>T
ENST00000359013.4:c.94+1613G>T	ENSP00000351905.4:n.94+1613G>T
NM_001024847.2:c.94+1613G>T , LRG_779t1:c.94+1613G>T	NP_001020018.1:n.94+1613G>T
NM_003242.5:c.94+1613G>T	NP_003233.4:n.94+1613G>T
XM_011534045.1:c.-12+1997G>T	XP_011532347.1:n.-12+1997G>T
XM_011534045.3:c.-12+1997G>T	XP_011532347.1:n.-12+1997G>T
NM_003242.6:c.94+1613G>T MANE Select	NP_003233.4:n.94+1613G>T