Canonical Allele Identifier: CA906173240

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1297132166
• gnomAD v3: 3-30606666-G-C
• gnomAD v4: 3-30606666-G-C
• MyVariant Identifiers: chr3:g.30648158G>C (hg19) ; chr3:g.30606666G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606666G>C , CM000665.2:g.30606666G>C	GRCh38
NC_000003.11:g.30648158G>C , CM000665.1:g.30648158G>C	GRCh37
NC_000003.10:g.30623162G>C	NCBI36
NG_007490.1:g.5165G>C , LRG_779:g.5165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-218G>C MANE Select	ENSP00000295754.5:n.-218G>C
ENST00000295754.9:c.-218G>C	ENSP00000295754.5:n.-218G>C
ENST00000359013.4:c.-218G>C	ENSP00000351905.4:n.-218G>C
NM_001024847.2:c.-218G>C , LRG_779t1:c.-218G>C	NP_001020018.1:n.-218G>C
NM_003242.5:c.-218G>C	NP_003233.4:n.-218G>C
XM_011534045.1:c.-12+73G>C	XP_011532347.1:n.-12+73G>C
XM_011534045.3:c.-12+73G>C	XP_011532347.1:n.-12+73G>C
NM_003242.6:c.-218G>C MANE Select	NP_003233.4:n.-218G>C