Canonical Allele Identifier: CA72291142

Gene: TGFBR2

Linked Data

• dbSNP Id: rs570746611
• gnomAD v2: 3-30658515-T-C
• gnomAD v3: 3-30617023-T-C
• gnomAD v4: 3-30617023-T-C
• MyVariant Identifiers: chr3:g.30658515T>C (hg19) ; chr3:g.30617023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617023T>C , CM000665.2:g.30617023T>C	GRCh38
NC_000003.11:g.30658515T>C , CM000665.1:g.30658515T>C	GRCh37
NC_000003.10:g.30633519T>C	NCBI36
NG_007490.1:g.15522T>C , LRG_779:g.15522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10046T>C MANE Select	ENSP00000295754.5:n.94+10046T>C
ENST00000673250.1:n.143+2317T>C
ENST00000295754.9:c.94+10046T>C	ENSP00000295754.5:n.94+10046T>C
ENST00000359013.4:c.95-6176T>C	ENSP00000351905.4:n.95-6176T>C
NM_001024847.2:c.95-6176T>C , LRG_779t1:c.95-6176T>C	NP_001020018.1:n.95-6176T>C
NM_003242.5:c.94+10046T>C	NP_003233.4:n.94+10046T>C
XM_011534043.1:c.46+2317T>C	XP_011532345.1:n.46+2317T>C
XM_011534044.1:c.46+2317T>C	XP_011532346.1:n.46+2317T>C
XM_011534045.1:c.-12+10430T>C	XP_011532347.1:n.-12+10430T>C
XM_011534043.2:c.46+2317T>C	XP_011532345.1:n.46+2317T>C
XM_011534045.3:c.-12+10430T>C	XP_011532347.1:n.-12+10430T>C
NM_003242.6:c.94+10046T>C MANE Select	NP_003233.4:n.94+10046T>C