Canonical Allele Identifier: CA542110296

Gene: TGFBR2

Linked Data

• dbSNP Id: rs763748763
• gnomAD v2: 3-30648354-A-C
• gnomAD v3: 3-30606862-A-C
• gnomAD v4: 3-30606862-A-C
• MyVariant Identifiers: chr3:g.30648354A>C (hg19) ; chr3:g.30606862A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606862A>C , CM000665.2:g.30606862A>C	GRCh38
NC_000003.11:g.30648354A>C , CM000665.1:g.30648354A>C	GRCh37
NC_000003.10:g.30623358A>C	NCBI36
NG_007490.1:g.5361A>C , LRG_779:g.5361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-22A>C MANE Select	ENSP00000295754.5:n.-22A>C
ENST00000295754.9:c.-22A>C	ENSP00000295754.5:n.-22A>C
ENST00000359013.4:c.-22A>C	ENSP00000351905.4:n.-22A>C
NM_001024847.2:c.-22A>C , LRG_779t1:c.-22A>C	NP_001020018.1:n.-22A>C
NM_003242.5:c.-22A>C	NP_003233.4:n.-22A>C
XM_011534045.1:c.-12+269A>C	XP_011532347.1:n.-12+269A>C
XM_011534045.3:c.-12+269A>C	XP_011532347.1:n.-12+269A>C
NM_003242.6:c.-22A>C MANE Select	NP_003233.4:n.-22A>C