Canonical Allele Identifier: CA529466415

Gene: TGFB2

Linked Data

• dbSNP Id: rs1433860669
• gnomAD v2: 1-218607399-T-C
• gnomAD v4: 1-218434057-T-C
• MyVariant Identifiers: chr1:g.218607399T>C (hg19) ; chr1:g.218434057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218434057T>C , CM000663.2:g.218434057T>C	GRCh38
NC_000001.10:g.218607399T>C , CM000663.1:g.218607399T>C	GRCh37
NC_000001.9:g.216674022T>C	NCBI36
NG_027721.1:g.93724T>C
NG_027721.2:g.93724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.511-25T>C MANE Select	ENSP00000355897.4:n.511-25T>C
ENST00000366929.4:c.595-25T>C	ENSP00000355896.4:n.595-25T>C
ENST00000366930.8:c.511-25T>C	ENSP00000355897.4:n.511-25T>C
ENST00000488793.1:n.175-25T>C
NM_001135599.2:c.595-25T>C	NP_001129071.1:n.595-25T>C
NM_003238.3:c.511-25T>C	NP_003229.1:n.511-25T>C
NM_001135599.3:c.595-25T>C	NP_001129071.1:n.595-25T>C
NM_003238.4:c.511-25T>C	NP_003229.1:n.511-25T>C
NR_138148.1:n.1929-25T>C
NR_138149.1:n.2013-25T>C
NM_003238.5:c.511-25T>C	NP_003229.1:n.511-25T>C
NM_003238.6:c.511-25T>C MANE Select	NP_003229.1:n.511-25T>C
NM_001135599.4:c.595-25T>C	NP_001129071.1:n.595-25T>C
NR_138148.2:n.1877-25T>C
NR_138149.2:n.1961-25T>C