Canonical Allele Identifier: CA1046446829

Gene: TGFBR2

Linked Data

• dbSNP Id: rs6550005
• gnomAD v3: 3-30608572-A-T
• gnomAD v4: 3-30608572-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30608572A>T , CM000665.2:g.30608572A>T	GRCh38
NC_000003.11:g.30650064A>T , CM000665.1:g.30650064A>T	GRCh37
NC_000003.10:g.30625068A>T	NCBI36
NG_007490.1:g.7071A>T , LRG_779:g.7071A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.94+1595A>T MANE Select	ENSP00000295754.5:n.94+1595A>T
ENST00000295754.9:c.94+1595A>T	ENSP00000295754.5:n.94+1595A>T
ENST00000359013.4:c.94+1595A>T	ENSP00000351905.4:n.94+1595A>T
NM_001024847.2:c.94+1595A>T , LRG_779t1:c.94+1595A>T	NP_001020018.1:n.94+1595A>T
NM_003242.5:c.94+1595A>T	NP_003233.4:n.94+1595A>T
XM_011534045.1:c.-12+1979A>T	XP_011532347.1:n.-12+1979A>T
XM_011534045.3:c.-12+1979A>T	XP_011532347.1:n.-12+1979A>T
NM_003242.6:c.94+1595A>T MANE Select	NP_003233.4:n.94+1595A>T