Canonical Allele Identifier: CA344727592

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 520197
• ClinVar RCV Id: RCV002315238
• dbSNP Id: rs1553303357
• gnomAD v4: 1-218437433-C-A
• MyVariant Identifiers: chr1:g.218610775C>A (hg19) ; chr1:g.218437433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437433C>A , CM000663.2:g.218437433C>A	GRCh38
NC_000001.10:g.218610775C>A , CM000663.1:g.218610775C>A	GRCh37
NC_000001.9:g.216677398C>A	NCBI36
NG_027721.1:g.97100C>A
NG_027721.2:g.97100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1023C>A MANE Select	ENSP00000355897.4:p.Tyr341Ter
ENST00000366929.4:c.1107C>A	ENSP00000355896.4:p.Tyr369Ter
ENST00000366930.8:c.1023C>A	ENSP00000355897.4:p.Tyr341Ter
ENST00000479322.1:n.507C>A
NM_001135599.2:c.1107C>A	NP_001129071.1:p.Tyr369Ter
NM_003238.3:c.1023C>A	NP_003229.1:p.Tyr341Ter
NM_001135599.3:c.1107C>A	NP_001129071.1:p.Tyr369Ter
NM_003238.4:c.1023C>A	NP_003229.1:p.Tyr341Ter
NR_138148.1:n.2326C>A
NR_138149.1:n.2410C>A
NM_003238.5:c.1023C>A	NP_003229.1:p.Tyr341Ter
NM_003238.6:c.1023C>A MANE Select	NP_003229.1:p.Tyr341Ter
NM_001135599.4:c.1107C>A	NP_001129071.1:p.Tyr369Ter
NR_138148.2:n.2274C>A
NR_138149.2:n.2358C>A