Canonical Allele Identifier: CA10616068

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344648
• ClinVar RCV Id: RCV000262441 ; RCV000301197 ; RCV000353680
• dbSNP Id: rs749340193
• gnomAD v2: 3-30648069-C-T
• gnomAD v3: 3-30606577-C-T
• gnomAD v4: 3-30606577-C-T
• COSMIC: COSN26960260
• MyVariant Identifiers: chr3:g.30648069C>T (hg19) ; chr3:g.30606577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606577C>T , CM000665.2:g.30606577C>T	GRCh38
NC_000003.11:g.30648069C>T , CM000665.1:g.30648069C>T	GRCh37
NC_000003.10:g.30623073C>T	NCBI36
NG_007490.1:g.5076C>T , LRG_779:g.5076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.9:c.-307C>T	ENSP00000295754.5:n.-307C>T
NM_001024847.2:c.-307C>T , LRG_779t1:c.-307C>T	NP_001020018.1:n.-307C>T
NM_003242.5:c.-307C>T	NP_003233.4:n.-307C>T
XM_011534045.1:c.-28C>T	XP_011532347.1:n.-28C>T
XM_011534045.3:c.-28C>T	XP_011532347.1:n.-28C>T